RGD:13539536 Rat Genome Database

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Variant: RGD:13539536 -  Homo sapiens

RGD ID: 13539536
RS ID: rs149387774
ClinVar ID: CV503917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GNT4  DIABLO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 122,693,102
GRCh38 12 122,208,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030765.4:c.*1167G>A
NM_001278302.1:c.255C>T
NM_001330492.2:c.*1167G>A
NM_001371333.1:c.546C>T
More... 		04/13/2021 3 prime utr variant|synonymous variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:B3GNT4
Accession:NM_030765
Location:3UTRS;EXON

Gene Symbol:B3GNT4
Accession:NM_001330492
Location:3UTRS;EXON

Gene Symbol:DIABLO
Accession:NM_001278342
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQAVYTLTSLYRQYTSLLGKM
NSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKA
ETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:DIABLO
Accession:NM_001278302
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDFYFQAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGAD
QASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:DIABLO
Accession:NM_001278303
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKL
ETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQE
AYLRED*

Gene Symbol:DIABLO
Accession:NM_001371333
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSL
VTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTA
VGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:DIABLO
Accession:NM_138930
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDFYFQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVW
QVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQI
EELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:DIABLO
Accession:NM_001278304
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSDFYFQKSEPHSLSSEALMRRAVSLVTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVW
QVIIGARAEMTSKHQEYLKLETTWMTAVGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQI
EELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:DIABLO
Accession:NM_019887
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALKSWLSRSVTSFFRYRQCLCVPVVANFKKRCFSELIRPWHKTVTIGFGVTLCAVPIAQKSEPHSLSSEALMRRAVSL
VTDSTSTFLSQTTYALIEAITEYTKAVYTLTSLYRQYTSLLGKMNSEEEDEVWQVIIGARAEMTSKHQEYLKLETTWMTA
VGLSEMAAEAAYQTGADQASITARNHIQLVKLQVEEVHQLSRKAETKLAEAQIEELRQKTQEEGEERAESEQEAYLRED*

Gene Symbol:B3GNT4
Accession:XM_047429535
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000613417 CLINVAR
  RCV000897925 CLINVAR
dbSNP (RS) rs149387774 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene B3GNT4 CLINVAR
  DIABLO CLINVAR
OMIM 605219 CLINVAR
  605864 CLINVAR