Product Details

SNP ID

rs79691215

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:104986800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAAAAGAGTGCAGTTCTCACCA[A/G]CCATGCCAGGGTGGACCTTGGGTGA

Phenotype

MIM: 608570

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AHNAK2 PubMed Links

Gene Details

Gene

AHNAK2

Gene Name

AHNAK nucleoprotein 2

There are no transcripts associated with this gene.

Gene

C14orf79

Gene Name

chromosome 14 open reading frame 79

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_174891.3	522	Silent Mutation	CAA,CAG	Q123Q	NP_777551.2
XM_005267317.3	522	Missense Mutation	CAA,CAG	Q123Q	XP_005267374.1
XM_005267318.3	522	Missense Mutation	CAA,CAG	Q123Q	XP_005267375.1

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