Product Details

SNP ID
rs138048249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101235931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTTCCCTGCCTAAGCCTAAAGCT[G/T]TTGAACGGGTCTGTTGGTGCCTCTG
Phenotype
MIM: 300052
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DRP2 PubMed Links

Gene Details

Gene
DRP2
Gene Name
dystrophin related protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171184.1 716 UTR 5 NP_001164655.1
NM_001939.2 716 Silent Mutation CTG,CTT L63L NP_001930.2
XM_017029333.1 716 Silent Mutation CTG,CTT L63L XP_016884822.1
XM_017029334.1 716 UTR 5 XP_016884823.1

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