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GTAAGGTACAGAGTCAGAGATATGA[C/T]GGTCCCTACAGCAATGTGGACAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613923 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKRD22 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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ANKRD22 - ankyrin repeat domain 22 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144590.2 | 3619 | UTR 3 | NP_653191.2 |
LIPM - lipase family member M | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128215.1 | 3619 | Missense Mutation | ACG,ATG | T,M 346 | NP_001121687.1 | |
XM_011539748.2 | 3619 | Missense Mutation | ACG,ATG | T,M 353 | XP_011538050.1 | |
XM_011539751.2 | 3619 | Missense Mutation | ACG,ATG | T,M 225 | XP_011538053.1 | |
XM_011539752.2 | 3619 | Missense Mutation | ACG,ATG | T,M 163 | XP_011538054.1 | |
XM_011539753.2 | 3619 | Intron | XP_011538055.1 |