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TTTTACCTTCTCAACTCATAAAGGT[C/T]TTTGTATTATTTTCCAATACTAACA
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) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
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 | Intron | NP_001135779.1 | ||||
NM_005316.3 | Intron | NP_005307.1 | ||||
XM_006718208.3 | Intron | XP_006718271.1 |
HPS5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 | ||||||
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There are no transcripts associated with this gene. |