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GTGGGGCACCACGCCGCACTGCGTG[C/T]GCACGGACAGACACCACTGGCCGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 605037 | ||||||||||||||||||||
Literature Links: |
KIF17 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 |
KIF17 - kinesin family member 17 | ||||||
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There are no transcripts associated with this gene. |
SH2D5 - SH2 domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001103160.1 | 1084 | Missense Mutation | CAC,CGC | H,R 251 | NP_001096630.1 | |
NM_001103161.1 | 1084 | Missense Mutation | CAC,CGC | H,R 335 | NP_001096631.1 | |
XM_011541459.1 | 1084 | Missense Mutation | CAC,CGC | H,R 335 | XP_011539761.1 | |
XM_011541460.1 | 1084 | Missense Mutation | CAC,CGC | H,R 335 | XP_011539762.1 | |
XM_011541461.2 | 1084 | Missense Mutation | CAC,CGC | H,R 335 | XP_011539763.1 | |
XM_011541462.1 | 1084 | Missense Mutation | CAC,CGC | H,R 334 | XP_011539764.1 |