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CTGCACAAAGTACATAGCCAATGAC[C/T]ATTTGATGAGCAGAATATACTTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 616696 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA0040 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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KIAA0040 - KIAA0040 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001162893.1 | 1530 | UTR 3 | NP_001156365.1 | |||
NM_001162894.1 | 1530 | UTR 3 | NP_001156366.1 | |||
NM_001162895.1 | 1530 | UTR 3 | NP_001156367.1 | |||
NM_001319230.1 | 1530 | UTR 3 | NP_001306159.1 | |||
NM_001319231.1 | 1530 | UTR 3 | NP_001306160.1 | |||
NM_014656.2 | 1530 | UTR 3 | NP_055471.2 | |||
XM_017002909.1 | 1530 | Nonsense Mutation | TAG,TGG | *,W 108 | XP_016858398.1 | |
XM_017002910.1 | 1530 | Nonsense Mutation | TAG,TGG | *,W 108 | XP_016858399.1 | |
XM_017002911.1 | 1530 | UTR 3 | XP_016858400.1 |