Product Details

SNP ID

rs146174009

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:108817105 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACATAAGGATTTGCTTCCAGAAAT[A/C]CTGCAGGAGTAGAAATGGGGTGAGG

Phenotype

MIM: 608339

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AKNAD1 PubMed Links

Gene Details

Gene

AKNAD1

Gene Name

AKNA domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152763.4	2601	Missense Mutation	AGG,AGT	R774S	NP_689976.2

Gene

STXBP3

Gene Name

syntaxin binding protein 3

There are no transcripts associated with this gene.

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