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ATTACAGTTTCAGGCTTTGCAGAAC[A/G]CTTTCTGTTTGGAGAAGAAAAAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604683 | ||||||||||||||||||||
Literature Links: |
KIF3A 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 |
KIF3A - kinesin family member 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300791.1 | 2296 | Missense Mutation | CGT,TGT | R,C 713 | NP_001287720.1 | |
NM_001300792.1 | 2296 | Missense Mutation | CGT,TGT | R,C 689 | NP_001287721.1 | |
NM_007054.6 | 2296 | Missense Mutation | CGT,TGT | R,C 686 | NP_008985.3 | |
XM_006714526.3 | 2296 | Intron | XP_006714589.1 | |||
XM_017008995.1 | 2296 | Intron | XP_016864484.1 | |||
XM_017008996.1 | 2296 | Intron | XP_016864485.1 |