SULT1A2 sulfotransferase family 1A member 2

Canonical transcript: NM_001054

45 unique variant annotations were identified in 57 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
16-28603335-T-C c.*14A>G - 3-UTRSNV 8/8 - 4
16-28603335-T-G c.*14A>C - 3-UTRSNV 8/8 - 4
16-28603342-A-G c.*7T>C - 3-UTRSNV 8/8 - 2
16-28603375-T-A c.862A>T p.Ser288Cys Missense 8/8 - 6
16-28603393-T-C c.844A>G p.Lys282Glu Missense 8/8 - 3
16-28603585-T-A c.774A>T p.Lys258Asn Missense 7/8 - 1
16-28603585-T-G c.774A>C p.Lys258Asn Missense 7/8 - 1
16-28603643-T-C c.716A>G p.Asn239Ser Missense 7/8 - 1
16-28603655-T-A c.704A>T p.Asn235Ile Missense 7/8 - 1
16-28603655-T-G c.704A>C p.Asn235Thr Missense 7/8 - 17
16-28603692-T-C c.667A>G p.Met223Val Missense 7/8 - 1
16-28603710-C-A c.649G>T p.Glu217* Nonsense 7/8 - 5
16-28603721-C-T c.638G>A p.Arg213His Missense 7/8 - 2
16-28604640-A-C c.527T>G p.Val176Gly Missense 6/8 - 1
16-28604686-A-G c.500-19T>C - IntronicSNV - 5/7 4
16-28604770-A-C c.492T>G p.Ala164Ala Synonymous 5/8 - 1
16-28604770-A-G c.492T>C p.Ala164Ala Synonymous 5/8 - 1
16-28604770-A-T c.492T>A p.Ala164Ala Synonymous 5/8 - 1
16-28604771-G-A c.491C>T p.Ala164Val Missense 5/8 - 1
16-28604816-T-TT c.446dup p.Tyr149* Nonsense 5/8 - 1
16-28605815-C-T c.372+873G>A - IntronicSNV - 4/7 1
16-28605915-T-A c.372+773A>T - IntronicSNV - 4/7 1
16-28605915-T-G c.372+773A>C - IntronicSNV - 4/7 1
16-28606160-G-A c.372+528C>T - IntronicSNV - 4/7 2
16-28606160-G-T c.372+528C>A - IntronicSNV - 4/7 2
16-28606173-C-A c.372+515G>T - IntronicSNV - 4/7 1
16-28606960-T-A c.185A>T p.Tyr62Phe Missense 3/8 - 2
16-28606960-T-C c.185A>G p.Tyr62Cys Missense 3/8 - 1
16-28607070-A-G c.148+34T>C - IntronicSNV - 2/7 2
16-28607109-T-C c.143A>G p.Lys48Arg Missense 2/8 - 1
16-28607121-C-G c.131G>C p.Ser44Thr Missense 2/8 - 1
16-28607121-C-T c.131G>A p.Ser44Asn Missense 2/8 - 1
16-28607195-C-T c.57G>A p.Pro19Pro Synonymous 2/8 - 1
16-28607196-G-A c.56C>T p.Pro19Leu Missense 2/8 - 7
16-28607196-G-C c.56C>G p.Pro19Arg Missense 2/8 - 7
16-28607197-G-A c.55C>T p.Pro19Ser Missense 2/8 - 1
16-28607228-A-G c.24T>C p.Ser8Ser Synonymous 2/8 - 2
16-28607232-A-C c.20T>G p.Ile7Ser Missense 2/8 - 6
16-28607232-A-G c.20T>C p.Ile7Thr Missense 2/8 - 6
16-28607232-A-T c.20T>A p.Ile7Asn Missense 2/8 - 6
16-28607370-C-T c.-4-115G>A - IntronicSNV - 1/7 1
16-28607532-G-A c.-4-277C>T - IntronicSNV - 1/7 3
16-28607532-G-T c.-4-277C>A - IntronicSNV - 1/7 3
16-28608230-G-A c.-5+88C>T - intron_variant - 1/7 1
16-28608341-T-C c.-28A>G - 5_prime_UTR_variant 1/8 - 4