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SNP ID

rs80283334

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17351506 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCAACATTTCAACGGGCCACAG[C/G]CAGGGCTGGGAGTTGGGGGAGAAGG

Phenotype

MIM: 608536 MIM: 607647

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GTPBP3 PubMed Links

Gene Details

Gene

GTPBP3

Gene Name

GTP binding protein 3 (mitochondrial)

There are no transcripts associated with this gene.

Gene

PLVAP

Gene Name

plasmalemma vesicle associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031310.2	2246	UTR 3			NP_112600.1

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