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CGTCCAAGAATGCCAACTGGTTGGC[C/T]AAAGCCATCCATTCCAAGGCTAAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
9 submissions
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Phenotype: |
MIM: 601836 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIFAP3 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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KIFAP3 - kinesin associated protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204514.1 | 2728 | Missense Mutation | AGC,GGC | S,G 687 | NP_001191443.1 | |
NM_001204516.1 | 2728 | Missense Mutation | AGC,GGC | S,G 721 | NP_001191445.1 | |
NM_001204517.1 | 2728 | Missense Mutation | AGC,GGC | S,G 725 | NP_001191446.1 | |
NM_014970.3 | 2728 | Missense Mutation | AGC,GGC | S,G 765 | NP_055785.2 | |
XM_005244970.1 | 2728 | Nonsense Mutation | TAG,TGG | *,W 777 | XP_005245027.1 | |
XM_011509307.2 | 2728 | UTR 3 | XP_011507609.2 |