Product Details

SNP ID

rs8192518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75566902 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTCGAGCGAAATATCCCGACAGG[A/G]TTCCGGTGAGTGGACTCTCCGCCCC

Phenotype

MIM: 607452

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GABARAPL2 PubMed Links

Gene Details

Gene

GABARAPL2

Gene Name

GABA type A receptor associated protein like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007285.6	221	Missense Mutation	ATT,GTT	I29V	NP_009216.1

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