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CCAAGAATATTTAAAGCGATTTGAG[C/T]GTGTCCAAGCTCATGTTGTACACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615757 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIZ PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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KIZ - kizuna centrosomal protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163022.1 | 381 | Intron | NP_001156494.1 | |||
NM_001163023.1 | 381 | Intron | NP_001156495.1 | |||
NM_001276389.1 | 381 | Intron | NP_001263318.1 | |||
NM_018474.4 | 381 | Missense Mutation | CGT,TGT | R,C 86 | NP_060944.3 | |
XM_011529296.2 | 381 | Missense Mutation | CGT,TGT | R,C 86 | XP_011527598.1 | |
XM_011529297.2 | 381 | Missense Mutation | CGT,TGT | R,C 86 | XP_011527599.1 | |
XM_011529298.2 | 381 | Missense Mutation | CGT,TGT | R,C 86 | XP_011527600.1 | |
XM_011529299.2 | 381 | Intron | XP_011527601.1 | |||
XM_017027951.1 | 381 | UTR 5 | XP_016883440.1 | |||
XM_017027952.1 | 381 | Intron | XP_016883441.1 | |||
XM_017027953.1 | 381 | UTR 5 | XP_016883442.1 | |||
XM_017027954.1 | 381 | Intron | XP_016883443.1 |