Product Details

SNP ID
rs148669614
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:86148964 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACTGTGTACACCAAGCTGAAGA[C/G]ACTGGATATATCCCCCGTGGTGTGT
Phenotype
MIM: 300608
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DACH2 PubMed Links

Gene Details

Gene
DACH2
Gene Name
dachshund family transcription factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139514.1 513 Missense Mutation ACA,AGA T115R NP_001132986.1
NM_001139515.1 513 Intron NP_001132987.1
NM_053281.3 513 Missense Mutation ACA,AGA T115R NP_444511.1
XM_011530846.2 513 Missense Mutation ACA,AGA T115R XP_011529148.1
XM_011530847.2 513 Missense Mutation ACA,AGA T115R XP_011529149.1
XM_011530848.2 513 Missense Mutation ACA,AGA T115R XP_011529150.1
XM_017029254.1 513 Missense Mutation ACA,AGA T115R XP_016884743.1
XM_017029255.1 513 Missense Mutation ACA,AGA T115R XP_016884744.1
XM_017029256.1 513 Missense Mutation ACA,AGA T115R XP_016884745.1

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