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ATCTTCATGTTGTTCCTTATCATTC[C/T]CCTGCACATCTGTTTCTTTCATACA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 2758 | Missense Mutation | GAG,GGG | E,G 770 | NP_001153519.1 | |
NM_020784.2 | 2758 | Missense Mutation | GAG,GGG | E,G 775 | NP_065835.2 | |
XM_017021505.1 | 2758 | Intron | XP_016876994.1 |