Product Details

SNP ID

rs6926723

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30915026 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCGACTCTGGAGGCTGAGATAGCA[A/G]GGGAGAGCAAGGTTAGGGGTCAGAC

Phenotype

MIM: 601760 MIM: 612802

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTF2H4 PubMed Links

Gene Details

Gene

GTF2H4

Gene Name

general transcription factor IIH subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001517.4	354	Intron			NP_001508.1

Gene

VARS2

Gene Name

valyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167733.2	354	Intron			NP_001161205.1
NM_001167734.1	354	Missense Mutation	AGG,GGG	R94G	NP_001161206.1
NM_020442.5	354	Missense Mutation	AGG,GGG	R64G	NP_065175.4

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