Product Details

SNP ID

rs149089061

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:30910743 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGACGTTCCCTCCCTTGACAAGTA[C/T]GCCGAGGAGCGATGGGAGGTAAGCA

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	660	Silent Mutation	TAC,TAT	Y151Y	NP_001508.1

Gene

VARS2

Gene Name

valyl-tRNA synthetase 2, mitochondrial

There are no transcripts associated with this gene.

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