Product Details

SNP ID

rs143617269

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77177728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATGGTTTTCGAGTCGGTGGTCGT[A/G]GACGTGTTGAACCGGTTCTTGGGGG

Phenotype

MIM: 605978

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

VPS13A PubMed Links

Gene Details

Gene

VPS13A

Gene Name

vacuolar protein sorting 13 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018037.1	284	Silent Mutation	GTA,GTG	V8V	NP_001018047.1
NM_001018038.2	284	Silent Mutation	GTA,GTG	V8V	NP_001018048.1
NM_015186.3	284	Silent Mutation	GTA,GTG	V8V	NP_056001.1
NM_033305.2	284	Silent Mutation	GTA,GTG	V8V	NP_150648.2

Gene

VPS13A-AS1

Gene Name

VPS13A antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details