Product Details

SNP ID

rs148094880

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:54499424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCATGGAACCATCTCTCAAGTAT[A/G]TCAACAAGAAATTTCCCAACATAGA

Phenotype

MIM: 141180

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NCKAP1L PubMed Links

Gene Details

Gene

NCKAP1L

Gene Name

NCK associated protein 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184976.1	122	Missense Mutation	ATC,GTC	I8V	NP_001171905.1
NM_005337.4	122	Missense Mutation	ATC,GTC	I58V	NP_005328.2

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