RGD:15123666 Rat Genome Database

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Variant: RGD:15123666 -  Homo sapiens

RGD ID: 15123666
RS ID: rs146998803
ClinVar ID: CV735568
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: H1-4  LOC127405574  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 26,156,930
GRCh38 6 26,156,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005321.3:c.312C>T
NC_000006.12:g.26156702C>T
NC_000006.11:g.26156930C>T
NM_005321.2:c.312C>T
More...
08/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:H1-4
Accession:NM_005321
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSETAPAAPAAPAPAEKTPVKKKARKSAGAAKRKASGPPVSELITKAVAASKERSGVSLAALKKALAAAGYDVEKNNSRI
KLGLKSLVSKGTLVQTKGTGASGSFKLNKKAASGEAKPKAKKAGAAKAKKPAGAAKKPKKATGAATPKKSAKKTPKKAKK
PAAAAGAKKAKSPKKAKAAKPKKAPKSPAKAKAVKPKAAKPKTAKPKAAKPKKAAAKKK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896452 CLINVAR
dbSNP (RS) rs146998803 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene H1-4 CLINVAR
OMIM 142220 CLINVAR