Product Details

SNP ID

rs143471064

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:44654733 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATGTCTCTGGCCAGGACTACTTC[A/G]TCAGCCCTCGAGTAGAGGTAGAGCT

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	1006	Silent Mutation	GAC,GAT	D147D	NP_001287675.1
NM_001300747.1	1006	Silent Mutation	GAC,GAT	D190D	NP_001287676.1
NM_001300748.1	1006	Silent Mutation	GAC,GAT	D189D	NP_001287677.1
NM_024587.3	1006	Silent Mutation	GAC,GAT	D220D	NP_078863.2
XM_011542138.2	1006	Silent Mutation	GAC,GAT	D103D	XP_011540440.1

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