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TCCTTGGTCATCATCATCATCGTCT[C/T]CCTCTTCCTCGTGGGCAGATCTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
FAM171A1 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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FAM171A1 - family with sequence similarity 171 member A1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010924.1 | 2510 | Missense Mutation | GAA,GGA | E,G 861 | NP_001010924.1 | |
XM_011519378.2 | 2510 | Missense Mutation | GAA,GGA | E,G 848 | XP_011517680.1 | |
XM_017015904.1 | 2510 | Missense Mutation | GAA,GGA | E,G 832 | XP_016871393.1 | |
XM_017015905.1 | 2510 | Missense Mutation | GAA,GGA | E,G 503 | XP_016871394.1 |