Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 3 | NC_000003.12:g.133756968G>A |
GRCh37.p13 chr 3 | NC_000003.11:g.133475812G>A |
TF RefSeqGene | NG_013080.1:g.15836G>A |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
TF transcript variant 1 | NM_001063.3:c.829G>A | G [GGC]> S [AGC] | Coding Sequence Variant |
serotransferrin isoform 1 precursor | NP_001054.1:p.Gly...NP_001054.1:p.Gly277Ser | G [Gly]> S [Ser] | Missense Variant |
TF transcript variant X1 | XM_017007089.1:c....XM_017007089.1:c.829G>A | G [GGC]> S [AGC] | Coding Sequence Variant |
serotransferrin isoform X1 | XP_016862578.1:p....XP_016862578.1:p.Gly277Ser | G [Gly]> S [Ser] | Missense Variant |
TF transcript variant X2 | XM_017007090.1:c....XM_017007090.1:c.829G>A | G [GGC]> S [AGC] | Coding Sequence Variant |
serotransferrin isoform X1 | XP_016862579.1:p....XP_016862579.1:p.Gly277Ser | G [Gly]> S [Ser] | Missense Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.998 | A=0.002 |
1000Genomes | American | Sub | 694 | G=0.960 | A=0.040 |
1000Genomes | East Asian | Sub | 1008 | G=1.000 | A=0.000 |
1000Genomes | Europe | Sub | 1006 | G=0.929 | A=0.071 |
1000Genomes | Global | Study-wide | 5008 | G=0.969 | A=0.031 |
1000Genomes | South Asian | Sub | 978 | G=0.950 | A=0.050 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.951 | A=0.049 |
The Exome Aggregation Consortium | American | Sub | 21984 | G=0.981 | A=0.018 |
The Exome Aggregation Consortium | Asian | Sub | 25166 | G=0.969 | A=0.030 |
The Exome Aggregation Consortium | Europe | Sub | 73348 | G=0.928 | A=0.071 |
The Exome Aggregation Consortium | Global | Study-wide | 121406 | G=0.946 | A=0.053 |
The Exome Aggregation Consortium | Other | Sub | 908 | G=0.920 | A=0.080 |
The Genome Aggregation Database | African | Sub | 8718 | G=0.991 | A=0.009 |
The Genome Aggregation Database | American | Sub | 836 | G=0.980 | A=0.020 |
The Genome Aggregation Database | East Asian | Sub | 1620 | G=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18450 | G=0.914 | A=0.085 |
The Genome Aggregation Database | Global | Study-wide | 29926 | G=0.943 | A=0.056 |
The Genome Aggregation Database | Other | Sub | 302 | G=0.950 | A=0.050 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.975 | A=0.024 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.954 | A=0.046 |
PMID | Title | Author | Journal |
---|---|---|---|
24121126 | Pooled analysis of iron-related genes in Parkinson's disease: association with transferrin. | Rhodes SL | Neurobiol Dis |
17601350 | A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. | Harris SE | BMC Genet |
27462317 | Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations. | Kishore A | Front Immunol |
12752114 | The G277S mutation in transferrin does not disturb function. | Aisen P | Br J Haematol |
21665994 | Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. | Kutalik Z | Hum Mol Genet |
27277665 | Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population. | Zholdybayeva EV | Hum Genomics |
11703331 | Human transferrin G277S mutation: a risk factor for iron deficiency anaemia. | Lee PL | Br J Haematol |
22879966 | Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study. | Verschuren JJ | PLoS One |
16398662 | Human transferrin G277S mutation and iron deficiency in pregnancy. | Delanghe J | Br J Haematol |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs1799899 | 1E-09 | alcohol consumption (transferrin glycosylation) | 21665994 |
Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue | |
---|---|---|---|---|---|---|---|
There is no eQTL annotation for this SNP |
Probe ID | Position | Gene | beta | p-value | |||
---|---|---|---|---|---|---|---|
There is no meQTL annotation for this SNP |
There is no significant Hi-C chromatin interaction data for this SNP.
Chromosome | Start | End | Region | Distance ( -/+ : Up/Downstream ) |
---|---|---|---|---|
chr3 | 133431016 | 133431089 | E067 | -44723 |
chr3 | 133436424 | 133436504 | E067 | -39308 |
chr3 | 133461397 | 133461916 | E067 | -13896 |
chr3 | 133461945 | 133462055 | E067 | -13757 |
chr3 | 133464069 | 133464119 | E067 | -11693 |
chr3 | 133464448 | 133464526 | E067 | -11286 |
chr3 | 133482923 | 133483028 | E067 | 7111 |
chr3 | 133483054 | 133483594 | E067 | 7242 |
chr3 | 133483998 | 133484070 | E067 | 8186 |
chr3 | 133436424 | 133436504 | E068 | -39308 |
chr3 | 133464069 | 133464119 | E068 | -11693 |
chr3 | 133482562 | 133482616 | E068 | 6750 |
chr3 | 133482923 | 133483028 | E068 | 7111 |
chr3 | 133483054 | 133483594 | E068 | 7242 |
chr3 | 133431016 | 133431089 | E069 | -44723 |
chr3 | 133436424 | 133436504 | E069 | -39308 |
chr3 | 133461397 | 133461916 | E069 | -13896 |
chr3 | 133461945 | 133462055 | E069 | -13757 |
chr3 | 133464069 | 133464119 | E069 | -11693 |
chr3 | 133473014 | 133473073 | E069 | -2739 |
chr3 | 133473315 | 133473659 | E069 | -2153 |
chr3 | 133476260 | 133476458 | E069 | 448 |
chr3 | 133482562 | 133482616 | E069 | 6750 |
chr3 | 133482923 | 133483028 | E069 | 7111 |
chr3 | 133483054 | 133483594 | E069 | 7242 |
chr3 | 133483998 | 133484070 | E069 | 8186 |
chr3 | 133484337 | 133484387 | E069 | 8525 |
chr3 | 133482923 | 133483028 | E070 | 7111 |
chr3 | 133483054 | 133483594 | E070 | 7242 |
chr3 | 133431016 | 133431089 | E071 | -44723 |
chr3 | 133436424 | 133436504 | E071 | -39308 |
chr3 | 133461397 | 133461916 | E071 | -13896 |
chr3 | 133461945 | 133462055 | E071 | -13757 |
chr3 | 133464069 | 133464119 | E071 | -11693 |
chr3 | 133473014 | 133473073 | E071 | -2739 |
chr3 | 133473315 | 133473659 | E071 | -2153 |
chr3 | 133482562 | 133482616 | E071 | 6750 |
chr3 | 133482923 | 133483028 | E071 | 7111 |
chr3 | 133483054 | 133483594 | E071 | 7242 |
chr3 | 133483998 | 133484070 | E071 | 8186 |
chr3 | 133484337 | 133484387 | E071 | 8525 |
chr3 | 133431016 | 133431089 | E072 | -44723 |
chr3 | 133461397 | 133461916 | E072 | -13896 |
chr3 | 133461945 | 133462055 | E072 | -13757 |
chr3 | 133464069 | 133464119 | E072 | -11693 |
chr3 | 133464448 | 133464526 | E072 | -11286 |
chr3 | 133473014 | 133473073 | E072 | -2739 |
chr3 | 133482923 | 133483028 | E072 | 7111 |
chr3 | 133483054 | 133483594 | E072 | 7242 |
chr3 | 133483998 | 133484070 | E072 | 8186 |
chr3 | 133484337 | 133484387 | E072 | 8525 |
chr3 | 133436424 | 133436504 | E073 | -39308 |
chr3 | 133461397 | 133461916 | E073 | -13896 |
chr3 | 133461945 | 133462055 | E073 | -13757 |
chr3 | 133464448 | 133464526 | E073 | -11286 |
chr3 | 133482923 | 133483028 | E073 | 7111 |
chr3 | 133483054 | 133483594 | E073 | 7242 |
chr3 | 133431016 | 133431089 | E074 | -44723 |
chr3 | 133436424 | 133436504 | E074 | -39308 |
chr3 | 133461397 | 133461916 | E074 | -13896 |
chr3 | 133461945 | 133462055 | E074 | -13757 |
chr3 | 133464069 | 133464119 | E074 | -11693 |
chr3 | 133473014 | 133473073 | E074 | -2739 |
chr3 | 133473315 | 133473659 | E074 | -2153 |
chr3 | 133476260 | 133476458 | E074 | 448 |
chr3 | 133482562 | 133482616 | E074 | 6750 |
chr3 | 133482923 | 133483028 | E074 | 7111 |
chr3 | 133483054 | 133483594 | E074 | 7242 |
chr3 | 133483998 | 133484070 | E074 | 8186 |
chr3 | 133484337 | 133484387 | E074 | 8525 |
chr3 | 133464448 | 133464526 | E082 | -11286 |
Chromosome | Start | End | Region | Distance(-/+:Up/Downstream) |
---|---|---|---|---|
chr3 | 133464975 | 133465152 | E067 | -10660 |
chr3 | 133465195 | 133465439 | E067 | -10373 |
chr3 | 133465691 | 133465761 | E067 | -10051 |
chr3 | 133468272 | 133468322 | E067 | -7490 |
chr3 | 133524082 | 133525550 | E067 | 48270 |
chr3 | 133525588 | 133525634 | E067 | 49776 |
chr3 | 133464975 | 133465152 | E068 | -10660 |
chr3 | 133465195 | 133465439 | E068 | -10373 |
chr3 | 133465691 | 133465761 | E068 | -10051 |
chr3 | 133468272 | 133468322 | E068 | -7490 |
chr3 | 133524082 | 133525550 | E068 | 48270 |
chr3 | 133525588 | 133525634 | E068 | 49776 |
chr3 | 133464975 | 133465152 | E069 | -10660 |
chr3 | 133465195 | 133465439 | E069 | -10373 |
chr3 | 133465691 | 133465761 | E069 | -10051 |
chr3 | 133468272 | 133468322 | E069 | -7490 |
chr3 | 133524082 | 133525550 | E069 | 48270 |
chr3 | 133465195 | 133465439 | E070 | -10373 |
chr3 | 133524082 | 133525550 | E070 | 48270 |
chr3 | 133525588 | 133525634 | E070 | 49776 |
chr3 | 133464975 | 133465152 | E071 | -10660 |
chr3 | 133465195 | 133465439 | E071 | -10373 |
chr3 | 133465691 | 133465761 | E071 | -10051 |
chr3 | 133468272 | 133468322 | E071 | -7490 |
chr3 | 133524082 | 133525550 | E071 | 48270 |
chr3 | 133525588 | 133525634 | E071 | 49776 |
chr3 | 133464975 | 133465152 | E072 | -10660 |
chr3 | 133465195 | 133465439 | E072 | -10373 |
chr3 | 133465691 | 133465761 | E072 | -10051 |
chr3 | 133468272 | 133468322 | E072 | -7490 |
chr3 | 133524082 | 133525550 | E072 | 48270 |
chr3 | 133525588 | 133525634 | E072 | 49776 |
chr3 | 133464975 | 133465152 | E073 | -10660 |
chr3 | 133465195 | 133465439 | E073 | -10373 |
chr3 | 133465691 | 133465761 | E073 | -10051 |
chr3 | 133468272 | 133468322 | E073 | -7490 |
chr3 | 133524082 | 133525550 | E073 | 48270 |
chr3 | 133525588 | 133525634 | E073 | 49776 |
chr3 | 133464975 | 133465152 | E074 | -10660 |
chr3 | 133465195 | 133465439 | E074 | -10373 |
chr3 | 133465691 | 133465761 | E074 | -10051 |
chr3 | 133468272 | 133468322 | E074 | -7490 |
chr3 | 133524082 | 133525550 | E074 | 48270 |
chr3 | 133525588 | 133525634 | E074 | 49776 |
chr3 | 133464975 | 133465152 | E081 | -10660 |
chr3 | 133524082 | 133525550 | E081 | 48270 |
chr3 | 133525588 | 133525634 | E081 | 49776 |
chr3 | 133464975 | 133465152 | E082 | -10660 |
chr3 | 133465195 | 133465439 | E082 | -10373 |
chr3 | 133524082 | 133525550 | E082 | 48270 |
chr3 | 133525588 | 133525634 | E082 | 49776 |