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SNP ID

rs117523576

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:108817080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTATTTCTTCAGTGCTATCAAAGT[C/T]ACATAAGGATTTGCTTCCAGAAATC

Phenotype

MIM: 608339

Polymorphism

C/T, Transition 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	2626	Missense Mutation	AAC,GAC	N783D	NP_689976.2

Gene

STXBP3

Gene Name

syntaxin binding protein 3

There are no transcripts associated with this gene.

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