Product Details

SNP ID
rs139093744
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:233840706 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCCAGGGAATTGCCCTGGCGTC[C/T]GGAGCCCTGGGGTTCTGATAGCCTG
Phenotype
MIM: 612667
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
HJURP PubMed Links
Additional Information
For this assay, SNP(s) [rs12582] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
HJURP
Gene Name
Holliday junction recognition protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282962.1 2140 Missense Mutation AGA,GGA R638G NP_001269891.1
NM_001282963.1 2140 Missense Mutation AGA,GGA R607G NP_001269892.1
NM_018410.4 2140 Missense Mutation AGA,GGA R692G NP_060880.3
XM_011511437.1 2140 Missense Mutation AGA,GGA R580G XP_011509739.1
Gene
MROH2A
Gene Name
maestro heat like repeat family member 2A
There are no transcripts associated with this gene.

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