RGD:13486392 Rat Genome Database

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Variant: RGD:13486392 -  Homo sapiens

RGD ID: 13486392
RS ID: rs779147014
ClinVar ID: CV443774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GALT7  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 177,035,977
GRCh38 5 177,608,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.177608976C>T
NP_009186.1:p.Arg264Trp
NG_015977.1:g.13859C>T
NC_000005.9:g.177035977C>T
More... 		08/28/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:B4GALT7
Accession:XM_047416681
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:NM_007255
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPP
PEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIA
MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTA
TPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_017008999
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_006714816
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTA
TPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416682
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*

Gene Symbol:B4GALT7
Accession:XM_047416680
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 150
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLY
HYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWWKRDQKRIAAQ
KQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000522895 CLINVAR
dbSNP (RS) rs779147014 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene B4GALT7 CLINVAR
OMIM 604327 CLINVAR