Product Details

SNP ID
rs139630492
Assay Type
Functionally Tested
NCBI dbSNP Submissions
17
Location
Chr.1:44654694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGACCCGGCGTGCCAGGCGTGC[C/T]TCCACCATGCGTTCTATGTCTCTGG
Phenotype
MIM: 616136
Polymorphism
C/T, 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 1045 Silent Mutation NP_001287675.1
NM_001300747.1 1045 Silent Mutation NP_001287676.1
NM_001300748.1 1045 Silent Mutation NP_001287677.1
NM_024587.3 1045 Silent Mutation NP_078863.2
XM_011542138.2 1045 Missense Mutation XP_011540440.1

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