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CGCGACGACAGCAACGGGGTTGGTG[C/T]CGGCCAGAAGGGCCGGGGACTGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
20 submissions
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Phenotype: |
MIM: 615125 MIM: 604372 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKRD13C 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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ANKRD13C - ankyrin repeat domain 13C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030816.4 | 280 | Missense Mutation | NP_110443.3 | |||
XM_005271234.3 | 280 | Missense Mutation | XP_005271291.1 | |||
XM_005271235.3 | 280 | Missense Mutation | XP_005271292.1 | |||
XM_006710929.3 | 280 | Missense Mutation | XP_006710992.1 | |||
XM_017002413.1 | 280 | Intron | XP_016857902.1 | |||
XM_017002414.1 | 280 | Intron | XP_016857903.1 | |||
XM_017002415.1 | 280 | Intron | XP_016857904.1 | |||
XM_017002416.1 | 280 | Intron | XP_016857905.1 |
HHLA3 - HERV-H LTR-associating 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031693.2 | 280 | Intron | NP_001026863.1 | |||
NM_001036645.1 | 280 | Intron | NP_001031722.1 | |||
NM_001036646.1 | 280 | Intron | NP_001031723.1 | |||
XM_011540547.2 | 280 | UTR 5 | XP_011538849.1 | |||
XM_011540548.2 | 280 | Intron | XP_011538850.1 |