Product Details

SNP ID

rs144799219

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:158173320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAAAGGGTAACTCTGTCTTCCCA[A/G]AAACACAAGTCTTCCAAAAAGATTT

Phenotype

MIM: 608780 MIM: 614725

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTF2H5 PubMed Links

Gene Details

Gene

GTF2H5

Gene Name

general transcription factor IIH subunit 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207118.2		Intron			NP_997001.1
XM_017010862.1		Intron			XP_016866351.1

Gene

SERAC1

Gene Name

serine active site containing 1

There are no transcripts associated with this gene.

View Full Product Details