Product Details

SNP ID
rs117296741
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:18326639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTACCTTCTCAACTCATAAAGGT[C/T]TTTGTATTATTTTCCAATACTAACA
Phenotype
MIM: 189972 MIM: 607521
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
GTF2H1 PubMed Links

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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