Product Details

SNP ID
rs34013624
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101235922 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTGCTGGGGTTCCCTGCCTAAG[A/C]CTAAAGCTGTTGAACGGGTCTGTTG
Phenotype
MIM: 300052
Polymorphism
A/C, 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_001171184.1 707 UTR 5 NP_001164655.1
NM_001939.2 707 Missense Mutation AGA,AGC R60S NP_001930.2
XM_017029333.1 707 Missense Mutation AGA,AGC R60S XP_016884822.1
XM_017029334.1 707 UTR 5 XP_016884823.1

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