Product Details

SNP ID
rs181246382
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:25392118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAGGCTGCGAACACGTAGAAGTG[A/C]CTCAGGTTCATGTGGTAGTCTGTCT
Phenotype
MIM: 111700
Polymorphism
A/C, 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_020485.4 596 Missense Mutation AGG,AGT R170S NP_065231.3
NM_138616.3 596 Intron NP_619522.3
NM_138617.3 596 Intron NP_619523.3
NM_138618.3 596 Missense Mutation AGG,AGT R170S NP_619524.3
XM_005245957.3 596 Missense Mutation AGG,AGT R170S XP_005246014.1
XM_006710810.3 596 Intron XP_006710873.1
XM_011541888.2 596 Missense Mutation AGG,AGT R130S XP_011540190.1
XM_011541889.2 596 Missense Mutation AGG,AGT R127S XP_011540191.1
XM_011541890.2 596 Missense Mutation AGG,AGT R170S XP_011540192.1
XM_011541891.2 596 Missense Mutation AGG,AGT R114S XP_011540193.1
XM_017002014.1 596 Missense Mutation AGG,AGT R170S XP_016857503.1

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