Product Details

SNP ID
rs3809099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:18323081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTGAGTCTGGGATTCTGTAAGA[C/G]AAAAGCTGTCACCTTGTTGTCTGCA
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 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007216.3 Intron NP_009147.3
NM_181507.1 Intron NP_852608.1
NM_181508.1 Intron NP_852609.1
XM_011519862.1 Intron XP_011518164.1
XM_011519863.1 Intron XP_011518165.1
XM_011519864.1 Intron XP_011518166.1
XM_011519865.1 Intron XP_011518167.1
XM_011519866.1 Intron XP_011518168.1
XM_011519867.1 Intron XP_011518169.1
XM_011519868.2 Intron XP_011518170.1
XM_017017149.1 Intron XP_016872638.1
XM_017017150.1 Intron XP_016872639.1
XM_017017151.1 Intron XP_016872640.1
XM_017017152.1 Intron XP_016872641.1
XM_017017153.1 Intron XP_016872642.1
XM_017017154.1 Intron XP_016872643.1

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