RGD:15104187 Rat Genome Database

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Variant: RGD:15104187 -  Homo sapiens

RGD ID: 15104187
RS ID: rs114381068
ClinVar ID: CV705647
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIS18A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 33,642,789
GRCh38 21 32,270,478
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_061817.1:p.Val151=
NC_000021.9:g.32270478C>T
NC_000021.8:g.33642789C>T
NM_018944.2:c.453G>A
More... 		05/30/2017 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MIS18A
Accession:XM_017028400
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGVRSLRCSRGCAGGCECGDKGKCSDSSLLGKRLSEDSSRHQLLQKWASMWSSMSEDASVADMERAQLEEEAAAAEERP
LVFLCSGCRRPLGDSLSWVASQEDTNCILLRCVSCNVSVDKEQKLSKREKENGCVLETLCCAGCSLNLGYVYRCTPKNLD
YKRDLFCLSVEAIEREMMPGAVKQILSHGMSVDLRLQSLGSWSRSCHCLPSRVLPTIIQEVVFQTLNRIMKSMA*

Gene Symbol:MIS18A
Accession:NM_018944
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGVRSLRCSRGCAGGCECGDKGKCSDSSLLGKRLSEDSSRHQLLQKWASMWSSMSEDASVADMERAQLEEEAAAAEERP
LVFLCSGCRRPLGDSLSWVASQEDTNCILLRCVSCNVSVDKEQKLSKREKENGCVLETLCCAGCSLNLGYVYRCTPKNLD
YKRDLFCLSVEAIESYVLGSSEKQIVSEDKELFNLESRVEIEKSLTQMEDVLKALQMKLWEAESKLSFATCKS*

Gene Symbol:MIS18A
Accession:XM_017028401
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGVRSLRCSRGCAGGCECGDKGKCSDSSLLGKRLSEDSSRHQLLQKWASMWSSMSEDASVADMERAQLEEEAAAAEERP
LVFLCSGCRRPLGDSLSWVASQEDTNCILLRCVSCNVSVDKEQKLSKREKENGCVLETLCCAGCSLNLGYVYRCTPKNLD
YKRDLFCLSVEAIEREMMPGAVKQILSHGMSVDLRLQSLGSWSRSCHCLPRSCLP*

Gene Symbol:MIS18A
Accession:XR_002958619
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000959635 CLINVAR
dbSNP (RS) rs114381068 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MIS18A CLINVAR
OMIM 618137 CLINVAR