Product Details

SNP ID
rs200314937
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:158355323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACCCCTTCGAGATCCAGATATTA[A/G]CTGGCTGTAGAATGAATGCCCCACA
Phenotype
MIM: 188411
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CD1E PubMed Links

Gene Details

Gene
CD1E
Gene Name
CD1e molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042583.2 375 Missense Mutation ACT,GCT T127A NP_001036048.1
NM_001042584.2 375 Missense Mutation ACT,GCT T127A NP_001036049.1
NM_001042585.2 375 Missense Mutation ACT,GCT T127A NP_001036050.1
NM_001042586.2 375 Intron NP_001036051.1
NM_001042587.2 375 Intron NP_001036052.1
NM_001185107.1 375 Intron NP_001172036.1
NM_001185108.1 375 Intron NP_001172037.1
NM_001185110.1 375 Intron NP_001172039.1
NM_001185112.1 375 Intron NP_001172041.1
NM_001185113.1 375 Intron NP_001172042.1
NM_001185114.1 375 Missense Mutation ACT,GCT T28A NP_001172043.1
NM_001185115.1 375 Intron NP_001172044.1
NM_030893.3 375 Missense Mutation ACT,GCT T127A NP_112155.2
XM_011510133.2 375 Missense Mutation ACT,GCT T127A XP_011508435.1
XM_011510134.2 375 Missense Mutation ACT,GCT T127A XP_011508436.1

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