Product Details

SNP ID
rs202025064
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:158355307 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCTGTCCACTCTCAGACCCCTT[C/T]GAGATCCAGATATTAGCTGGCTGTA
Phenotype
MIM: 188411
Polymorphism
C/T, 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_001042583.2 359 Silent Mutation TTC,TTT F121F NP_001036048.1
NM_001042584.2 359 Silent Mutation TTC,TTT F121F NP_001036049.1
NM_001042585.2 359 Silent Mutation TTC,TTT F121F NP_001036050.1
NM_001042586.2 359 Intron NP_001036051.1
NM_001042587.2 359 Intron NP_001036052.1
NM_001185107.1 359 Intron NP_001172036.1
NM_001185108.1 359 Intron NP_001172037.1
NM_001185110.1 359 Intron NP_001172039.1
NM_001185112.1 359 Intron NP_001172041.1
NM_001185113.1 359 Intron NP_001172042.1
NM_001185114.1 359 Silent Mutation TTC,TTT F22F NP_001172043.1
NM_001185115.1 359 Intron NP_001172044.1
NM_030893.3 359 Silent Mutation TTC,TTT F121F NP_112155.2
XM_011510133.2 359 Silent Mutation TTC,TTT F121F XP_011508435.1
XM_011510134.2 359 Silent Mutation TTC,TTT F121F XP_011508436.1

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