Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGCAGAGGAGCAGCTGTCCTTCC[A/G]CATGCTCCAAACTTCCTCCTTTGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 188411 | ||||||||||||||||||||
Literature Links: |
CD1E 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 |
CD1E - CD1e molecule | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042583.2 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001036048.1 | |
NM_001042584.2 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001036049.1 | |
NM_001042585.2 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001036050.1 | |
NM_001042586.2 | 406 | Intron | NP_001036051.1 | |||
NM_001042587.2 | 406 | Intron | NP_001036052.1 | |||
NM_001185107.1 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001172036.1 | |
NM_001185108.1 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001172037.1 | |
NM_001185110.1 | 406 | Intron | NP_001172039.1 | |||
NM_001185112.1 | 406 | Intron | NP_001172041.1 | |||
NM_001185113.1 | 406 | Intron | NP_001172042.1 | |||
NM_001185114.1 | 406 | Intron | NP_001172043.1 | |||
NM_001185115.1 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_001172044.1 | |
NM_030893.3 | 406 | Missense Mutation | CAC,CGC | H,R 38 | NP_112155.2 | |
XM_011510133.2 | 406 | Missense Mutation | CAC,CGC | H,R 38 | XP_011508435.1 | |
XM_011510134.2 | 406 | Missense Mutation | CAC,CGC | H,R 38 | XP_011508436.1 |