Product Details

SNP ID
rs150439970
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:31318319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGAGATGGACTGGAGTTTCTTC[A/G]GAGTAGTTGCAATGCTGTTCATTTT
Phenotype
MIM: 125670
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DSG1 PubMed Links

Gene Details

Gene
DSG1
Gene Name
desmoglein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001942.3 231 Missense Mutation AGA,GGA R7G NP_001933.2

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