Product Details

SNP ID
rs199502493
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:30653596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCCACCTCTTCCTCACGGCTGAG[C/T]GCACCTGTGGGGAAGGCAGAGGCTC
Phenotype
MIM: 602034
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRHR2 PubMed Links

Gene Details

Gene
CRHR2
Gene Name
corticotropin releasing hormone receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202475.1 2289 Missense Mutation CAC,CGC H394R NP_001189404.1
NM_001202481.1 2289 Missense Mutation CAC,CGC H353R NP_001189410.1
NM_001202482.1 2289 Missense Mutation CAC,CGC H366R NP_001189411.1
NM_001202483.1 2289 UTR 3 NP_001189412.1
NM_001883.4 2289 Missense Mutation CAC,CGC H367R NP_001874.2
XM_011515127.2 2289 Silent Mutation GCA,GCG A437A XP_011513429.1
XM_011515128.2 2289 Intron XP_011513430.1
XM_011515129.2 2289 Intron XP_011513431.1
XM_017011751.1 2289 Silent Mutation GCA,GCG A436A XP_016867240.1
XM_017011752.1 2289 Missense Mutation CAC,CGC H353R XP_016867241.1

View Full Product Details