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TCTGCCCTTGCAGGAAAATGTAACA[A/G]TCCAGGTAGGTGCCTGTCATCTGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 604538 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIF2C 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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KIF2C - kinesin family member 2C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297655.1 | 491 | Missense Mutation | ATC,GTC | I,V 88 | NP_001284584.1 | |
NM_001297656.1 | 491 | Missense Mutation | ATC,GTC | I,V 34 | NP_001284585.1 | |
NM_001297657.1 | 491 | UTR 5 | NP_001284586.1 | |||
NM_006845.3 | 491 | Missense Mutation | ATC,GTC | I,V 88 | NP_006836.2 | |
XM_011540540.2 | 491 | UTR 5 | XP_011538842.1 | |||
XM_011540541.2 | 491 | UTR 5 | XP_011538843.1 |