Product Details

SNP ID
rs142626797
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:54909269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAATGTATGACACACCCACCCTCT[C/T]GGTTCATCCTGGACCCGAAGTGATC
Phenotype
MIM: 604530
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCR1 PubMed Links

Gene Details

Gene
NCR1
Gene Name
natural cytotoxicity triggering receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145457.2 514 Missense Mutation TCG,TTG S127L NP_001138929.2
NM_001145458.2 514 Missense Mutation TCG,TTG S127L NP_001138930.2
NM_001242356.2 514 Missense Mutation TCG,TTG S32L NP_001229285.1
NM_001242357.2 514 Missense Mutation TCG,TTG S32L NP_001229286.1
NM_004829.6 514 Missense Mutation TCG,TTG S127L NP_004820.2
XM_011527528.2 514 Missense Mutation TCG,TTG S127L XP_011525830.1
XM_011527529.2 514 Missense Mutation TCG,TTG S127L XP_011525831.1
XM_011527530.2 514 Missense Mutation TCG,TTG S127L XP_011525832.1

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