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GGCTGCAATAAACCCAGAACTCTTA[C/G]AGCTTCTTCCCTTACATCCGAAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
9 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 437 | Missense Mutation | CAG,GAG | Q,E 70 | NP_001284584.1 | |
NM_001297656.1 | 437 | Missense Mutation | CAG,GAG | Q,E 16 | NP_001284585.1 | |
NM_001297657.1 | 437 | UTR 5 | NP_001284586.1 | |||
NM_006845.3 | 437 | Missense Mutation | CAG,GAG | Q,E 70 | NP_006836.2 | |
XM_011540540.2 | 437 | UTR 5 | XP_011538842.1 | |||
XM_011540541.2 | 437 | UTR 5 | XP_011538843.1 |