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ATGCTTTATTCTCAGAGTTTCAATC[A/G]GTTCTTTTCTGACTGCCGATTTATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616179 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TXNDC16 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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TXNDC16 - thioredoxin domain containing 16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160047.1 | 2806 | Missense Mutation | CCG,CTG | P,L 786 | NP_001153519.1 | |
NM_020784.2 | 2806 | Missense Mutation | CCG,CTG | P,L 791 | NP_065835.2 | |
XM_017021505.1 | 2806 | Intron | XP_016876994.1 |