RGD:15100469 Rat Genome Database

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Variant: RGD:15100469 -  Homo sapiens

RGD ID: 15100469
RS ID: rs61749076
ClinVar ID: CV700033
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRHR2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 30,728,895
GRCh38 7 30,689,279
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202481.1:c.-255C>T
NG_029169.1:g.15825C>T
NC_000007.14:g.30689279G>A
NC_000007.13:g.30728895G>A
More... 		05/21/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CRHR2
Accession:NM_001202481
Location:5UTRS;EXON

Gene Symbol:CRHR2
Accession:NM_001202475
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGPSGPPGLLYVPHLLLCLLCLLPPPLQYAAGQSQMPKDQPLWALLEQYCHTIMTLTNLSGPYSYCNTTLDQIGTCWPR
SAAGALVERPCPEYFNGVKYNTTRNAYRECLENGTWASKINYSQCEPILDDKQRKYDLHYRIALVVNYLGHCVSVAALVA
AFLLFLALRSIRCLRNVIHWNLITTFILRNVMWFLLQLVDHEVHESNEVWCRCITTIFNYFVVTNFFWMFVEGCYLHTAI
VMTYSTERLRKCLFLFIGWCIPFPIIVAWAIGKLYYENEQCWFGKEPGDLVDYIYQGPIILVLLINFVFLFNIVRILMTK
LRASTTSETIQYRKAVKATLVLLPLLGITYMLFFVNPGEDDLSQIMFIYFNSFLQSFQGFFVSVFYCFFNGEVRSAVRKR
WHRWQDHHSLRVPMARAMSIPTSPTRISFHSIKQTAAV*

Gene Symbol:CRHR2
Accession:NM_001202482
Location:INTRON

Gene Symbol:CRHR2
Accession:XM_047419893
Location:INTRON

Gene Symbol:CRHR2
Accession:NM_001883
Location:INTRON

Gene Symbol:CRHR2
Accession:NM_001202483
Location:INTRON

Gene Symbol:CRHR2
Accession:XM_047419892
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958919 CLINVAR
dbSNP (RS) rs61749076 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CRHR2 CLINVAR
OMIM 602034 CLINVAR