Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189972 MIM: 607521 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
GTF2H1 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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GTF2H1 - general transcription factor IIH subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142307.1 | 7 | UTR 5 | NP_001135779.1 | |||
NM_005316.3 | 7 | UTR 5 | NP_005307.1 | |||
XM_006718208.3 | 7 | Intron | XP_006718271.1 |
HPS5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007216.3 | 7 | Intron | NP_009147.3 | |||
NM_181507.1 | 7 | Intron | NP_852608.1 | |||
NM_181508.1 | 7 | Intron | NP_852609.1 | |||
XM_011519862.1 | 7 | Intron | XP_011518164.1 | |||
XM_011519863.1 | 7 | Intron | XP_011518165.1 | |||
XM_011519864.1 | 7 | Intron | XP_011518166.1 | |||
XM_011519865.1 | 7 | UTR 5 | XP_011518167.1 | |||
XM_011519866.1 | 7 | Intron | XP_011518168.1 | |||
XM_011519867.1 | 7 | Intron | XP_011518169.1 | |||
XM_011519868.2 | 7 | UTR 5 | XP_011518170.1 | |||
XM_017017149.1 | 7 | Intron | XP_016872638.1 | |||
XM_017017150.1 | 7 | Intron | XP_016872639.1 | |||
XM_017017151.1 | 7 | UTR 5 | XP_016872640.1 | |||
XM_017017152.1 | 7 | UTR 5 | XP_016872641.1 | |||
XM_017017153.1 | 7 | UTR 5 | XP_016872642.1 | |||
XM_017017154.1 | 7 | Intron | XP_016872643.1 |
Set Membership: |
HapMap |