RGD:156388648 Rat Genome Database

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Variant: RGD:156388648 -  Homo sapiens

RGD ID: 156388648
ClinVar ID: CV2375955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SULT1A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 28,634,466
GRCh38 16 28,623,145
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001394424.1:c.-121C>T
NM_001394422.1:c.-1223C>T
NM_177536.5:c.-17C>T
NM_001394425.1:c.-351C>T
More... 		08/09/2021 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SULT1A1
Accession:NM_001394424
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:NM_001394423
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:NM_177536
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:NM_001394422
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:NM_001394425
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:NM_001394421
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:XM_047434547
Location:5UTRS;EXON

Gene Symbol:SULT1A1
Accession:XM_047434549
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLAKLLCDQVVGAPIAVLAFYAGMSILQGKDDIFLDLKQKFWNTYMVVYVARNAKDVAVSYYHFYHMAKVHPEPGTWDSF
LEKFMVGEVSYGSWYQHVQEWWELSRTHPVLYLFYEDMKEGPSAAQNPKREIQKILEFVGRSLPEETVDFVVQHTSFKEM
KKNPMTNYTTVPQEFMDHSISPFMRKGMAGDWKTTFTVAQNERFDADYAEKMAGCSLSFRSEL*

Gene Symbol:SULT1A1
Accession:XM_017023610
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_047434550
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_017023604
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_047434548
Location:INTRON

Gene Symbol:SULT1A1
Accession:NM_001055
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_047434545
Location:INTRON

Gene Symbol:SULT1A1
Accession:NM_177530
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_017023605
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_017023608
Location:INTRON

Gene Symbol:SULT1A1
Accession:NM_177529
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_047434546
Location:INTRON

Gene Symbol:SULT1A1
Accession:XM_047434544
Location:INTRON

Gene Symbol:SULT1A1
Accession:NM_177534
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004218163 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SULT1A1 CLINVAR
OMIM 171150 CLINVAR