Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATAGACTTACCTAATATGGACCTCT[A/G]ATGCAACTTCCATTAAGTCACCATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608381 MIM: 192975 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CERKL 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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CERKL - ceramide kinase like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001030311.2 | 1570 | Missense Mutation | TCA,TTA | S,L 534 | NP_001025482.1 | |
NM_001030312.2 | 1570 | Missense Mutation | TCA,TTA | S,L 395 | NP_001025483.1 | |
NM_001030313.2 | 1570 | Missense Mutation | TCA,TTA | S,L 439 | NP_001025484.1 | |
NM_001160277.1 | 1570 | Missense Mutation | TCA,TTA | S,L 490 | NP_001153749.1 | |
NM_201548.4 | 1570 | Missense Mutation | TCA,TTA | S,L 508 | NP_963842.1 |
ITGA4 - integrin subunit alpha 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000885.5 | 1570 | Intron | NP_000876.3 | |||
NM_001316312.1 | 1570 | Intron | NP_001303241.1 |