Sequence Name | Change(s) |
---|---|
GRCh38.p7 chr 7 | NC_000007.14:g.50539996G>A |
GRCh37.p13 chr 7 | NC_000007.13:g.50607694G>A |
DDC RefSeqGene | NG_008742.1:g.30461C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DDC transcript variant 3 | NM_001242886.1:c. | N/A | Intron Variant |
DDC transcript variant 5 | NM_001242888.1:c. | N/A | Intron Variant |
DDC transcript variant 1 | NM_001082971.1:c....NM_001082971.1:c.234C>T | A [GCC]> A [GCT] | Coding Sequence Variant |
aromatic-L-amino-acid decarboxylase isoform 1 | NP_001076440.1:p....NP_001076440.1:p.Ala78= | A [Ala]> A [Ala] | Synonymous Variant |
DDC transcript variant 2 | NM_000790.3:c.234C>T | A [GCC]> A [GCT] | Coding Sequence Variant |
aromatic-L-amino-acid decarboxylase isoform 1 | NP_000781.1:p.Ala78= | A [Ala]> A [Ala] | Synonymous Variant |
DDC transcript variant 4 | NM_001242887.1:c....NM_001242887.1:c.234C>T | A [GCC]> A [GCT] | Coding Sequence Variant |
aromatic-L-amino-acid decarboxylase isoform 3 | NP_001229816.1:p....NP_001229816.1:p.Ala78= | A [Ala]> A [Ala] | Synonymous Variant |
DDC transcript variant 6 | NM_001242889.1:c....NM_001242889.1:c.234C>T | A [GCC]> A [GCT] | Coding Sequence Variant |
aromatic-L-amino-acid decarboxylase isoform 5 | NP_001229818.1:p....NP_001229818.1:p.Ala78= | A [Ala]> A [Ala] | Synonymous Variant |
DDC transcript variant 7 | NM_001242890.1:c....NM_001242890.1:c.234C>T | A [GCC]> A [GCT] | Coding Sequence Variant |
aromatic-L-amino-acid decarboxylase isoform 6 | NP_001229819.1:p....NP_001229819.1:p.Ala78= | A [Ala]> A [Ala] | Synonymous Variant |
DDC transcript variant X2 | XM_005271745.4:c. | N/A | Intron Variant |
DDC transcript variant X1 | XM_011515161.2:c. | N/A | Genic Upstream Transcript Variant |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
DDC-AS1 transcript | NR_033845.1:n.344G>A | G>A | Non Coding Transcript Variant |
Study | Population | Group | Sample # | Ref Allele | Alt Allele |
---|---|---|---|---|---|
1000Genomes | African | Sub | 1322 | G=0.859 | A=0.141 |
1000Genomes | American | Sub | 694 | G=0.990 | A=0.010 |
1000Genomes | East Asian | Sub | 1008 | G=0.999 | A=0.001 |
1000Genomes | Europe | Sub | 1006 | G=0.983 | A=0.017 |
1000Genomes | Global | Study-wide | 5008 | G=0.955 | A=0.045 |
1000Genomes | South Asian | Sub | 978 | G=0.990 | A=0.010 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.984 | A=0.016 |
The Exome Aggregation Consortium | American | Sub | 21052 | G=0.928 | A=0.071 |
The Exome Aggregation Consortium | Asian | Sub | 24106 | G=0.990 | A=0.009 |
The Exome Aggregation Consortium | Europe | Sub | 69762 | G=0.982 | A=0.017 |
The Exome Aggregation Consortium | Global | Study-wide | 115756 | G=0.974 | A=0.025 |
The Exome Aggregation Consortium | Other | Sub | 836 | G=0.980 | A=0.020 |
The Genome Aggregation Database | African | Sub | 8726 | G=0.863 | A=0.137 |
The Genome Aggregation Database | American | Sub | 838 | G=0.980 | A=0.020 |
The Genome Aggregation Database | East Asian | Sub | 1622 | G=1.000 | A=0.000 |
The Genome Aggregation Database | Europe | Sub | 18488 | G=0.985 | A=0.014 |
The Genome Aggregation Database | Global | Study-wide | 29976 | G=0.950 | A=0.049 |
The Genome Aggregation Database | Other | Sub | 302 | G=1.000 | A=0.000 |
Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.927 | A=0.072 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.988 | A=0.012 |
PMID | Title | Author | Journal |
---|---|---|---|
21881118 | Genetic variants and susceptibility to neurological complications following West Nile virus infection. | Loeb M | J Infect Dis |
23953852 | Genome-wide association studies of maximum number of drinks. | Pan Y | J Psychiatr Res |
27884205 | Whole genome sequence analysis of serum amino acid levels. | Yu B | Genome Biol |
20732625 | Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder. | Neale BM | J Am Acad Child Adolesc Psychiatry |
SNP ID | p-value | Traits | Study |
---|---|---|---|
rs11575302 | 2.87E-05 | alcohol consumption | 23953852 |
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 ) |
---|---|---|---|---|
chr7 | 50598960 | 50599691 | E067 | -8003 |
chr7 | 50599710 | 50599919 | E067 | -7775 |
chr7 | 50599948 | 50600033 | E067 | -7661 |
chr7 | 50600073 | 50600144 | E067 | -7550 |
chr7 | 50602342 | 50602965 | E068 | -4729 |
chr7 | 50599710 | 50599919 | E069 | -7775 |
chr7 | 50599948 | 50600033 | E069 | -7661 |
chr7 | 50600073 | 50600144 | E069 | -7550 |
chr7 | 50652602 | 50653144 | E069 | 44908 |
chr7 | 50595823 | 50595915 | E070 | -11779 |
chr7 | 50595987 | 50596159 | E070 | -11535 |
chr7 | 50598960 | 50599691 | E070 | -8003 |
chr7 | 50600073 | 50600144 | E070 | -7550 |
chr7 | 50623847 | 50624736 | E070 | 16153 |
chr7 | 50624833 | 50625171 | E070 | 17139 |
chr7 | 50625206 | 50625424 | E070 | 17512 |
chr7 | 50625457 | 50625501 | E070 | 17763 |
chr7 | 50628526 | 50629016 | E070 | 20832 |
chr7 | 50628526 | 50629016 | E071 | 20832 |
chr7 | 50628315 | 50628425 | E074 | 20621 |
chr7 | 50628526 | 50629016 | E074 | 20832 |
chr7 | 50598960 | 50599691 | E081 | -8003 |
chr7 | 50599710 | 50599919 | E081 | -7775 |
chr7 | 50599948 | 50600033 | E081 | -7661 |
chr7 | 50628526 | 50629016 | E082 | 20832 |