Product Details

SNP ID

rs4150539

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:18323558 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCATTTGAAGACCCAGTCTTAAAAA[C/T]AAAAACAAAAAAAAAACTGAGTGGT

Phenotype

MIM: 189972 MIM: 607521

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GTF2H1 PubMed Links

Additional Information

For this assay, SNP(s) [rs542625140,rs561292473] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GTF2H1

Gene Name

general transcription factor IIH subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142307.1		Intron			NP_001135779.1
NM_005316.3		Intron			NP_005307.1
XM_006718208.3		Intron			XP_006718271.1

Gene

HPS5

Gene Name

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2

There are no transcripts associated with this gene.

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