RGD:13541962 Rat Genome Database

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Variant: RGD:13541962 -  Homo sapiens

RGD ID: 13541962
RS ID: rs1555016641
ClinVar ID: CV503397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GAT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 66,114,822
GRCh38 11 66,347,351
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033202.1:g.5340C>T
NC_000011.10:g.66347351G>A
NC_000011.9:g.66114822G>A
NP_006867.1:p.Thr65=
More... 		12/20/2017 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:B4GAT1
Accession:NM_006876
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYR
VYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP
WQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQF
KQELKAKYPNSPRRC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000616877 CLINVAR
dbSNP (RS) rs1555016641 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene B4GAT1 CLINVAR
OMIM 605517 CLINVAR