Product Details

SNP ID

rs139888003

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:26219060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTTAGACCTGCTGCCGGCGTGT[A/G]ATGGAGAAAGGCCCACTTTGGCGTT

Phenotype

MIM: 138275 MIM: 606808

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAD2 PubMed Links

Gene Details

Gene

GAD2

Gene Name

glutamate decarboxylase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000818.2	807	Missense Mutation	AAT,GAT	N102D	NP_000809.1
NM_001134366.1	807	Missense Mutation	AAT,GAT	N102D	NP_001127838.1

Gene

MYO3A

Gene Name

myosin IIIA

There are no transcripts associated with this gene.

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