Product Details

SNP ID
hCV11916081
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:11762209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGAAATCCCTGAAGTTCTGAAGA[A/G]GCAGCTGGAGGATGATTGTTACTAC
Phenotype
MIM: 300609
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MSL3 PubMed Links

Gene Details

Gene
MSL3
Gene Name
male-specific lethal 3 homolog (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193270.2 620 Missense Mutation AAG,AGG K170R NP_001180199.1
NM_001282174.1 620 Missense Mutation AAG,AGG K33R NP_001269103.1
NM_006800.3 620 Missense Mutation AAG,AGG K16R NP_006791.2
NM_078628.1 620 Intron NP_523352.1
NM_078629.3 620 Missense Mutation AAG,AGG K182R NP_523353.2

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