Product Details

SNP ID

rs34385786

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:44654760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCCTCGAGTAGAGGTAGAGCTC[A/G]GGCCAGCGAGAGCCCGCGTCCTGTA

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	979	Silent Mutation	CCC,CCT	P138P	NP_001287675.1
NM_001300747.1	979	Silent Mutation	CCC,CCT	P181P	NP_001287676.1
NM_001300748.1	979	Silent Mutation	CCC,CCT	P180P	NP_001287677.1
NM_024587.3	979	Silent Mutation	CCC,CCT	P211P	NP_078863.2
XM_011542138.2	979	Silent Mutation	CCC,CCT	P94P	XP_011540440.1

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