Product Details

SNP ID
rs1053354
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:25392034 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTGGGTATCGTTGCTCTCTGATC[T/A]TTATCCTCCGTTCCCTTGGGTAGAG
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_020485.4 680 Missense Mutation AAA,AAT K198N NP_065231.3
NM_138616.3 680 Intron NP_619522.3
NM_138617.3 680 Intron NP_619523.3
NM_138618.3 680 Missense Mutation AAA,AAT K198N NP_619524.3
XM_005245957.3 680 Missense Mutation AAA,AAT K198N XP_005246014.1
XM_006710810.3 680 Intron XP_006710873.1
XM_011541888.2 680 Missense Mutation AAA,AAT K158N XP_011540190.1
XM_011541889.2 680 Missense Mutation AAA,AAT K155N XP_011540191.1
XM_011541890.2 680 Missense Mutation AAA,AAT K198N XP_011540192.1
XM_011541891.2 680 Missense Mutation AAA,AAT K142N XP_011540193.1
XM_017002014.1 680 Missense Mutation AAA,AAT K198N XP_016857503.1

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