Product Details

SNP ID
rs199739008
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:617452 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCGGAGTCACTGGCGCCATCCA[C/T]GTCCAGGGTGGGCGCGTTGAGAACG
Phenotype
MIM: 606839 MIM: 605047 MIM: 611780 MIM: 182099
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CDHR5 PubMed Links

Gene Details

Gene
CDHR5
Gene Name
cadherin related family member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171968.1 2169 Missense Mutation ATG,GTG M807V NP_001165439.1
NM_021924.4 2169 Missense Mutation ATG,GTG M813V NP_068743.2
NM_031264.3 2169 Missense Mutation ATG,GTG M619V NP_112554.2
XM_006718253.3 2169 Missense Mutation ATG,GTG M733V XP_006718316.1
XM_011520188.2 2169 Missense Mutation ATG,GTG M702V XP_011518490.1
XM_011520189.2 2169 Missense Mutation ATG,GTG M671V XP_011518491.1
XM_011520190.2 2169 UTR 3 XP_011518492.1
XM_011520191.2 2169 Intron XP_011518493.1
Gene
IRF7
Gene Name
interferon regulatory factor 7
There are no transcripts associated with this gene.

Gene
PHRF1
Gene Name
PHD and ring finger domains 1
There are no transcripts associated with this gene.

Gene
SCT
Gene Name
secretin
There are no transcripts associated with this gene.

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