Product Details

SNP ID
rs114865992
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49791949 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGCCACTCTGCCTTCCTCGGCCA[C/T]GTCCGAAGTGCTGGGGGTGCGGCTA
Phenotype
MIM: 615104
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCKAP5L PubMed Links

Gene Details

Gene
NCKAP5L
Gene Name
NCK associated protein 5 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037806.3 4392 Missense Mutation ATG,GTG M1299V NP_001032895.2
XM_005269050.3 4392 Intron XP_005269107.1
XM_006719525.2 4392 Missense Mutation ATG,GTG M1299V XP_006719588.1
XM_011538610.2 4392 Missense Mutation ATG,GTG M1299V XP_011536912.1
XM_011538611.2 4392 Missense Mutation ATG,GTG M1299V XP_011536913.1

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