Product Details

SNP ID

rs138904774

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:44654690 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGCCAGGACCCGGCGTGCCAGGC[A/G]TGCCTCCACCATGCGTTCTATGTCT

Phenotype

MIM: 616136

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RNF220 PubMed Links

Gene Details

Gene

RNF220

Gene Name

ring finger protein 220

There are no transcripts associated with this gene.

Gene

TMEM53

Gene Name

transmembrane protein 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300746.1	1049	Missense Mutation	CGC,TGC	R162C	NP_001287675.1
NM_001300747.1	1049	Missense Mutation	CGC,TGC	R205C	NP_001287676.1
NM_001300748.1	1049	Missense Mutation	CGC,TGC	R204C	NP_001287677.1
NM_024587.3	1049	Missense Mutation	CGC,TGC	R235C	NP_078863.2
XM_011542138.2	1049	Missense Mutation	CGC,TGC	R118C	XP_011540440.1

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