Product Details

SNP ID
rs200280997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:78615852 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCAGCTTGGGGGTTTGATTTCAT[G/T]AGTTACTGGACAAGAACTGGAATGG
Phenotype
MIM: 615906
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RNF219 PubMed Links

Gene Details

Gene
RNF219
Gene Name
ring finger protein 219
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024546.3 1968 Missense Mutation AAT,CAT N637H NP_078822.3
XM_011535225.1 1968 Missense Mutation AAT,CAT N560H XP_011533527.1
XM_017020743.1 1968 Missense Mutation AAT,CAT N560H XP_016876232.1
Gene
RNF219-AS1
Gene Name
RNF219 antisense RNA 1
There are no transcripts associated with this gene.

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