Product Details

SNP ID
rs200318904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10929329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGCTCGCTGGTGTACGAGGCGC[C/T]CTTCGACGCCCAGGCCAGCCTCTAC
Phenotype
MIM: 603934
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C19orf52 PubMed Links

Gene Details

Gene
C19orf52
Gene Name
chromosome 19 open reading frame 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138358.2 485 Missense Mutation CCC,CTC P137L NP_612367.1
Gene
CARM1
Gene Name
coactivator associated arginine methyltransferase 1
There are no transcripts associated with this gene.

Gene
YIPF2
Gene Name
Yip1 domain family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321439.1 485 Intron NP_001308368.1
NM_001321440.1 485 Intron NP_001308369.1
NM_024029.4 485 Intron NP_076934.1
XM_011528270.2 485 Intron XP_011526572.1
XM_011528271.2 485 Intron XP_011526573.1

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