Product Details

SNP ID
rs199512188
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:7590409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGATCCCGGGGAAGAGGAGGCGG[C/T]GGAGGTGAGGAGCGCGGCCGCGGGG
Phenotype
MIM: 125647
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DSP PubMed Links

Gene Details

Gene
DSP
Gene Name
desmoplakin
There are no transcripts associated with this gene.

Gene
SNRNP48
Gene Name
small nuclear ribonucleoprotein U11/U12 subunit 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152551.3 211 Missense Mutation GCG,GTG A51V NP_689764.3
XM_011514312.2 211 Intron XP_011512614.1

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