Product Details

SNP ID

rs183671693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:54500555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCAACATTTAGGACCAGTACATC[C/G]TGAAAAAGCCGAGATAATTAGATTC

Phenotype

MIM: 141180

Polymorphism

C/G, Transversion 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	186	Missense Mutation	CCT,CGT	P29R	NP_001171905.1
NM_005337.4	186	Missense Mutation	CCT,CGT	P79R	NP_005328.2

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