Product Details

SNP ID
rs1053350
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:25392084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTTGGCAGGCACCAGGCCACAG[T/A]CAGCCCAAAATAGGCTGCGAACACG
Phenotype
MIM: 111700
Polymorphism
T/A, Transversion Substitution
Allele Nomenclature
Literature Links
RHCE PubMed Links

Gene Details

Gene
RHCE
Gene Name
Rh blood group CcEe antigens
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020485.4 630 Missense Mutation ACT,TCT T182S NP_065231.3
NM_138616.3 630 Intron NP_619522.3
NM_138617.3 630 Intron NP_619523.3
NM_138618.3 630 Missense Mutation ACT,TCT T182S NP_619524.3
XM_005245957.3 630 Missense Mutation ACT,TCT T182S XP_005246014.1
XM_006710810.3 630 Intron XP_006710873.1
XM_011541888.2 630 Missense Mutation ACT,TCT T142S XP_011540190.1
XM_011541889.2 630 Missense Mutation ACT,TCT T139S XP_011540191.1
XM_011541890.2 630 Missense Mutation ACT,TCT T182S XP_011540192.1
XM_011541891.2 630 Missense Mutation ACT,TCT T126S XP_011540193.1
XM_017002014.1 630 Missense Mutation ACT,TCT T182S XP_016857503.1

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