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TTTCCACTTTCATTCATGATAATGT[C/T]GAACACGGTGAGTAGATCAGTTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
BTBD16 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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BTBD16 - BTB domain containing 16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318189.1 | 272 | Missense Mutation | TCG,TTG | S,L 4 | NP_001305118.1 | |
NM_144587.3 | 272 | Missense Mutation | TCG,TTG | S,L 4 | NP_653188.2 | |
XM_011539239.2 | 272 | Missense Mutation | TCG,TTG | S,L 4 | XP_011537541.1 | |
XM_011539240.2 | 272 | Missense Mutation | TCG,TTG | S,L 4 | XP_011537542.1 | |
XM_011539241.2 | 272 | Missense Mutation | TCG,TTG | S,L 4 | XP_011537543.1 | |
XM_011539242.2 | 272 | Missense Mutation | TCG,TTG | S,L 4 | XP_011537544.1 | |
XM_017015636.1 | 272 | Missense Mutation | TCG,TTG | S,L 4 | XP_016871125.1 | |
XM_017015637.1 | 272 | UTR 5 | XP_016871126.1 |