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ACTCAGTTCTGCCATGGTCAAGGGC[C/T]GGGTAAACCGCAAGTGCTCTGTGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 609448 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KTI12 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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KTI12 - KTI12 chromatin associated homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138417.2 | 971 | Missense Mutation | CAG,CGG | Q,R 311 | NP_612426.1 |
TXNDC12 - thioredoxin domain containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015913.3 | 971 | Intron | NP_056997.1 |