Product Details

SNP ID
rs189739775
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:57331891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAGACATAATCACAAGCTTGGCA[A/G]GAAATGAAGCACCTGCATTCACGAT
Phenotype
MIM: 605114
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPO11 PubMed Links

Gene Details

Gene
SPO11
Gene Name
SPO11, initiator of meiotic double stranded breaks
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012444.2 283 Missense Mutation AGA,GGA R64G NP_036576.1
NM_198265.1 283 Intron NP_937998.1
XM_005260379.3 283 Missense Mutation AGA,GGA R64G XP_005260436.1
XM_005260380.3 283 Missense Mutation AGA,GGA R64G XP_005260437.1
XM_005260381.3 283 Missense Mutation AGA,GGA R64G XP_005260438.1
XM_005260382.4 283 Missense Mutation AGA,GGA R64G XP_005260439.1
XM_011528756.2 283 Intron XP_011527058.1
XM_011528757.2 283 UTR 5 XP_011527059.1

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