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ACGCCCTTGGCTGCACGCTCAGTGT[C/T]GCTTCGTGGAGGAGACCTTCTTTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182115 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYTH1 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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CYTH1 - cytohesin 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001292018.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 338 | NP_001278947.1 | |
NM_001292019.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 338 | NP_001278948.1 | |
NM_004762.3 | 1706 | Missense Mutation | CAA,CGA | Q,R 397 | NP_004753.1 | |
NM_017456.3 | 1706 | Missense Mutation | CAA,CGA | Q,R 396 | NP_059430.2 | |
XM_011525475.2 | 1706 | UTR 3 | XP_011523777.1 | |||
XM_011525476.2 | 1706 | UTR 3 | XP_011523778.1 | |||
XM_011525477.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 338 | XP_011523779.1 | |
XM_011525478.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 234 | XP_011523780.1 | |
XM_017025336.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 398 | XP_016880825.1 | |
XM_017025337.1 | 1706 | UTR 3 | XP_016880826.1 | |||
XM_017025338.1 | 1706 | Missense Mutation | CAA,CGA | Q,R 337 | XP_016880827.1 |