Product Details

SNP ID

rs191702515

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27329150 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAGCAGTTGTCCTGAGCCACAGT[A/G]ACACCATTGTAGGGAAGCAGCCAGG

Phenotype

MIM: 604883 MIM: 137960

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTF3C2 PubMed Links

Gene Details

Gene

GTF3C2

Gene Name

general transcription factor IIIC subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001035521.2	2753	Silent Mutation	GTC,GTT	V670V	NP_001030598.1
NM_001318909.1	2753	Silent Mutation	GTC,GTT	V681V	NP_001305838.1
NM_001521.3	2753	Silent Mutation	GTC,GTT	V670V	NP_001512.1
XM_005264272.4	2753	Silent Mutation	GTC,GTT	V709V	XP_005264329.1
XM_011532801.2	2753	Silent Mutation	GTC,GTT	V785V	XP_011531103.1

Gene

GTF3C2-AS1

Gene Name

GTF3C2 antisense RNA 1

There are no transcripts associated with this gene.

Gene

MPV17

Gene Name

MPV17, mitochondrial inner membrane protein

There are no transcripts associated with this gene.

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