Product Details

SNP ID

rs188545155

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:80263725 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCATGTCTCCAAGGAGGAAACCC[C/T]CAAGTTCTGCAGCCAGTGCGGAGAG

Phenotype

MIM: 613768

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RNF213 PubMed Links

Gene Details

Gene

RNF213

Gene Name

ring finger protein 213

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256071.2	235	Missense Mutation	CCC,CTC	P15L	NP_001243000.2
NM_020954.3	235	Missense Mutation	CCC,CTC	P15L	NP_066005.2
XM_005257545.4	235	Missense Mutation	CCC,CTC	P15L	XP_005257602.2
XM_005257546.4	235	Missense Mutation	CCC,CTC	P15L	XP_005257603.2
XM_006721995.3	235	Missense Mutation	CCC,CTC	P15L	XP_006722058.1
XM_011525084.2	235	Missense Mutation	CCC,CTC	P15L	XP_011523386.1
XM_011525086.2	235	Missense Mutation	CCC,CTC	P15L	XP_011523388.1
XM_011525087.2	235	Missense Mutation	CCC,CTC	P15L	XP_011523389.1
XM_017024905.1	235	Intron			XP_016880394.1

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