Product Details

SNP ID
rs78642840
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:18241254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAATCTAAACTTACACATTTTTTTA[A/C]CTGTATTTTCCTTCTTTAAGCTTTT
Phenotype
MIM: 300208
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SCML2 PubMed Links

Gene Details

Gene
SCML2
Gene Name
sex comb on midleg-like 2 (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006089.2 2069 Missense Mutation AGG,AGT R700S NP_006080.1
XM_006724458.1 2069 UTR 3 XP_006724521.1
XM_017029219.1 2069 Missense Mutation AGG,AGT R700S XP_016884708.1
XM_017029220.1 2069 Missense Mutation AGG,AGT R700S XP_016884709.1
XM_017029221.1 2069 UTR 3 XP_016884710.1
XM_017029222.1 2069 Missense Mutation AGG,AGT R436S XP_016884711.1

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