Product Details

SNP ID
rs201133637
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:7541953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGCTCCCACCCGCGGATCAACA[C/T]TCTGGGCCGCATGATCCGCGCCGAG
Phenotype
MIM: 125647
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DSP PubMed Links

Gene Details

Gene
DSP
Gene Name
desmoplakin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008844.2 379 Missense Mutation ACT,ATT T13I NP_001008844.1
NM_001319034.1 379 Missense Mutation ACT,ATT T13I NP_001305963.1
NM_004415.3 379 Missense Mutation ACT,ATT T13I NP_004406.2
Gene
LOC101928076
Gene Name
uncharacterized LOC101928076
There are no transcripts associated with this gene.

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