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AATCTGCCTACGGCGGCGGACGCGA[C/T]TCTCGACGGCCTCCGAGGAGACGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612536 MIM: 613583 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC101927572 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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LOC101927572 - uncharacterized LOC101927572 | ||||||
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There are no transcripts associated with this gene. |
THAP8 - THAP domain containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152658.2 | 233 | Intron | NP_689871.1 | |||
XM_005258623.2 | 233 | Intron | XP_005258680.1 | |||
XM_011526604.2 | 233 | Intron | XP_011524906.1 |
WDR62 - WD repeat domain 62 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001083961.1 | 233 | Missense Mutation | CTC,TTC | L,F 48 | NP_001077430.1 | |
NM_173636.4 | 233 | Missense Mutation | CTC,TTC | L,F 48 | NP_775907.4 | |
XM_005258809.2 | 233 | Missense Mutation | CTC,TTC | L,F 48 | XP_005258866.1 | |
XM_011526837.1 | 233 | Missense Mutation | CTC,TTC | L,F 48 | XP_011525139.1 | |
XM_011526838.1 | 233 | Missense Mutation | CTC,TTC | L,F 48 | XP_011525140.1 | |
XM_011526839.1 | 233 | Missense Mutation | CTC,TTC | L,F 48 | XP_011525141.1 | |
XM_011526840.2 | 233 | Intron | XP_011525142.1 | |||
XM_011526841.2 | 233 | Intron | XP_011525143.1 | |||
XM_011526842.1 | 233 | Intron | XP_011525144.1 | |||
XM_011526843.1 | 233 | Intron | XP_011525145.1 | |||
XM_011526844.2 | 233 | Intron | XP_011525146.1 | |||
XM_017026665.1 | 233 | Missense Mutation | CTC,TTC | L,F 48 | XP_016882154.1 |