Product Details

SNP ID

rs1053349

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:25392114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAAATAGGCTGCGAACACGTAGA[A/T]GTGCCTCAGGTTCATGTGGTAGTCT

Phenotype

MIM: 111700

Polymorphism

A/T, 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	600	Missense Mutation	ATC,TTC	I172F	NP_065231.3
NM_138616.3	600	Intron			NP_619522.3
NM_138617.3	600	Intron			NP_619523.3
NM_138618.3	600	Missense Mutation	ATC,TTC	I172F	NP_619524.3
XM_005245957.3	600	Missense Mutation	ATC,TTC	I172F	XP_005246014.1
XM_006710810.3	600	Intron			XP_006710873.1
XM_011541888.2	600	Missense Mutation	ATC,TTC	I132F	XP_011540190.1
XM_011541889.2	600	Missense Mutation	ATC,TTC	I129F	XP_011540191.1
XM_011541890.2	600	Missense Mutation	ATC,TTC	I172F	XP_011540192.1
XM_011541891.2	600	Missense Mutation	ATC,TTC	I116F	XP_011540193.1
XM_017002014.1	600	Missense Mutation	ATC,TTC	I172F	XP_016857503.1

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