Product Details

SNP ID

rs6926224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30914912 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCACTCACGGGGCCTCCCCAGGTTT[C/T]ACTCCGTTTCTACACAGTCGGAGCC

Phenotype

MIM: 601760 MIM: 612802

Polymorphism

C/T, 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	240	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	240	Intron			NP_001161205.1
NM_001167734.1	240	Missense Mutation	CAC,TAC	H56Y	NP_001161206.1
NM_020442.5	240	Missense Mutation	CAC,TAC	H26Y	NP_065175.4

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