RGD:15173212 Rat Genome Database

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Variant: RGD:15173212 -  Homo sapiens

RGD ID: 15173212
RS ID: rs776094709
ClinVar ID: CV725052
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BHLHE41  SSPN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 26,275,368
GRCh38 12 26,122,435
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030762.3:c.1080C>G
NG_012011.2:g.5445G>C
NG_021173.1:g.7636C>G
NC_000012.12:g.26122435G>C
More... 		05/08/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SSPN
Accession:XM_011520853
Location:5UTRS;INTRON

Gene Symbol:BHLHE41
Accession:NM_030762
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 360
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTTL
GHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCV
QLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDS
GYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAAAAALLGPDPAAAAALLRPDA
ALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAAAYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGIPAPAAAAA
AAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPESSAQEDPSQPGKE
AP*

Gene Symbol:SSPN
Accession:XM_011520855
Location:INTRON

Gene Symbol:SSPN
Accession:NM_005086
Location:INTRON

Gene Symbol:SSPN
Accession:XM_011520854
Location:INTRON

Gene Symbol:SSPN
Accession:NM_001135823
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000883991 CLINVAR
dbSNP (RS) rs776094709 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BHLHE41 CLINVAR
  SSPN CLINVAR
OMIM 601599 CLINVAR
  606200 CLINVAR