rs2232251

Homo sapiens
T>C / T>G
HEMK1 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0035 (1065/29968,GnomAD)
G=0055 (1602/29118,TOPMED)
T==0040 (527/13006,GO-ESP)
G=0047 (233/5008,1000G)
chr3:50577559 (GRCh38.p7) (3p21.31)
AD
GWASdb2
1   publication(s)
See rs on genome
14 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.50577559T>C
GRCh38.p7 chr 3NC_000003.12:g.50577559T>G
GRCh37.p13 chr 3NC_000003.11:g.50614990T>C
GRCh37.p13 chr 3NC_000003.11:g.50614990T>G

Gene: HEMK1, HemK methyltransferase family member 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
HEMK1 transcript variant 1NM_016173.4:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1NP_057257.1:p.His...NP_057257.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant 1NM_016173.4:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1NP_057257.1:p.His...NP_057257.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant 2NM_001317851.1:c....NM_001317851.1:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1NP_001304780.1:p....NP_001304780.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant 2NM_001317851.1:c....NM_001317851.1:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1NP_001304780.1:p....NP_001304780.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X2XM_011533807.1:c....XM_011533807.1:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532109.1:p....XP_011532109.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X2XM_011533807.1:c....XM_011533807.1:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532109.1:p....XP_011532109.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X3XM_011533808.1:c....XM_011533808.1:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532110.1:p....XP_011532110.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X3XM_011533808.1:c....XM_011533808.1:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532110.1:p....XP_011532110.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X1XM_011533806.2:c....XM_011533806.2:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532108.1:p....XP_011532108.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X1XM_011533806.2:c....XM_011533806.2:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X1XP_011532108.1:p....XP_011532108.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X5XM_011533809.2:c....XM_011533809.2:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X2XP_011532111.1:p....XP_011532111.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X5XM_011533809.2:c....XM_011533809.2:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X2XP_011532111.1:p....XP_011532111.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X6XM_011533810.2:c....XM_011533810.2:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X3XP_011532112.1:p....XP_011532112.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X6XM_011533810.2:c....XM_011533810.2:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X3XP_011532112.1:p....XP_011532112.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X11XM_011533812.2:c....XM_011533812.2:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X5XP_011532114.1:p....XP_011532114.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X11XM_011533812.2:c....XM_011533812.2:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X5XP_011532114.1:p....XP_011532114.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X12XM_005265218.3:c....XM_005265218.3:c.600T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X6XP_005265275.1:p....XP_005265275.1:p.His200=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X12XM_005265218.3:c....XM_005265218.3:c.600T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X6XP_005265275.1:p....XP_005265275.1:p.His200GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X15XM_011533813.2:c....XM_011533813.2:c.279T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X7XP_011532115.1:p....XP_011532115.1:p.His93=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X15XM_011533813.2:c....XM_011533813.2:c.279T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X7XP_011532115.1:p....XP_011532115.1:p.His93GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X16XM_011533814.2:c....XM_011533814.2:c.279T>CH [CAT]> H [CAC]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X7XP_011532116.1:p....XP_011532116.1:p.His93=H [His]> H [His]Synonymous Variant
HEMK1 transcript variant X16XM_011533814.2:c....XM_011533814.2:c.279T>GH [CAT]> Q [CAG]Coding Sequence Variant
hemK methyltransferase family member 1 isoform X7XP_011532116.1:p....XP_011532116.1:p.His93GlnH [His]> Q [Gln]Missense Variant
HEMK1 transcript variant X4XR_940451.2:n.119...XR_940451.2:n.1197T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X4XR_940451.2:n.119...XR_940451.2:n.1197T>GT>GNon Coding Transcript Variant
HEMK1 transcript variant X8XR_940453.2:n.119...XR_940453.2:n.1197T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X8XR_940453.2:n.119...XR_940453.2:n.1197T>GT>GNon Coding Transcript Variant
HEMK1 transcript variant X9XR_940454.2:n.119...XR_940454.2:n.1197T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X9XR_940454.2:n.119...XR_940454.2:n.1197T>GT>GNon Coding Transcript Variant
HEMK1 transcript variant X10XR_001740170.1:n....XR_001740170.1:n.1197T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X10XR_001740170.1:n....XR_001740170.1:n.1197T>GT>GNon Coding Transcript Variant
HEMK1 transcript variant X13XR_940455.2:n.119...XR_940455.2:n.1197T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X13XR_940455.2:n.119...XR_940455.2:n.1197T>GT>GNon Coding Transcript Variant
HEMK1 transcript variant X14XR_001740171.1:n....XR_001740171.1:n.1082T>CT>CNon Coding Transcript Variant
HEMK1 transcript variant X14XR_001740171.1:n....XR_001740171.1:n.1082T>GT>GNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.833G=0.167
1000GenomesAmericanSub694T=0.990G=0.010
1000GenomesEast AsianSub1008T=1.000G=0.000
1000GenomesEuropeSub1006T=0.998G=0.002
1000GenomesGlobalStudy-wide5008T=0.953G=0.047
1000GenomesSouth AsianSub978T=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8714T=0.880G=0.120
The Genome Aggregation DatabaseAmericanSub838T=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1622T=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18492T=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29968T=0.964G=0.035
The Genome Aggregation DatabaseOtherSub302T=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.945G=0.055
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22322510.000761alcohol dependence20201924

eQTL of rs2232251 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2232251 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr35574818655748377E070-46738
chr35574840955748476E070-46639
chr35574851855748625E070-46490
chr35575881855759180E070-35935
chr35575252855752846E073-42269
chr35574566555746076E081-49039
chr35574818655748377E081-46738
chr35579953655799596E0814421
chr35580084455801333E0815729
chr35578932355789459E082-5656
chr35578956455789614E082-5501
chr35578966255789855E082-5260
chr35578999055790089E082-5026
chr35580084455801333E0825729