Product Details

SNP ID
hCV59723397
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:18322715 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGATCCAACCCAGTTAGTTACTTC[C/G]TGTCTAGAGTTGTAGCTTCCACCTG
Phenotype
MIM: 189972 MIM: 607521
Polymorphism
C/G, Transversion 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_001142307.1 447 UTR 5 NP_001135779.1
NM_005316.3 447 UTR 5 NP_005307.1
Gene
HPS5
Gene Name
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007216.3 447 Intron NP_009147.3
NM_181507.1 447 Intron NP_852608.1
NM_181508.1 447 Intron NP_852609.1

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