Product Details

SNP ID
rs190810622
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:55569723 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAATATTATGGTAATTACCTTGA[G/T]CTGTATAGATGAATTATAACCCACA
Phenotype
MIM: 611676
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PDCL2 PubMed Links

Gene Details

Gene
PDCL2
Gene Name
phosducin like 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152401.2 460 Missense Mutation AGA,AGC R119S NP_689614.2
XM_005265728.3 460 Missense Mutation AGA,AGC R119S XP_005265785.1
XM_011534374.2 460 Missense Mutation AGA,AGC R87S XP_011532676.1
XM_017007745.1 460 Missense Mutation AGA,AGC R119S XP_016863234.1

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