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SNP ID

rs146810817

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:77177797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACGTCCCAGCTCTCTCTGGGCAT[C/G]TGGAAAGGTAAGGAGGCCGCCGCCG

Phenotype

MIM: 605978

Polymorphism

C/G, Transversion 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	353	Missense Mutation	ATC,ATG	I31M	NP_001018047.1
NM_001018038.2	353	Missense Mutation	ATC,ATG	I31M	NP_001018048.1
NM_015186.3	353	Missense Mutation	ATC,ATG	I31M	NP_056001.1
NM_033305.2	353	Missense Mutation	ATC,ATG	I31M	NP_150648.2

Gene

VPS13A-AS1

Gene Name

VPS13A antisense RNA 1

There are no transcripts associated with this gene.

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