Product Details

SNP ID
rs146170506
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83456102 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGGCCGCTGTGGTTGCTGTTTGC[A/G]GTGGTCTAGGGAGGAAGAAGTTGAC
Phenotype
MIM: 611143 MIM: 606769 MIM: 611983
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
FAM175A PubMed Links
Additional Information
For this assay, SNP(s) [rs3182340] are located under a primer 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
FAM175A
Gene Name
family with sequence similarity 175 member A
There are no transcripts associated with this gene.

Gene
HELQ
Gene Name
helicase, POLQ-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297755.1 171 Intron NP_001284684.1
NM_001297756.1 171 Intron NP_001284685.1
NM_001297757.1 171 Intron NP_001284686.1
NM_001297758.1 171 Intron NP_001284687.1
NM_001297759.1 171 Intron NP_001284688.1
NM_133636.3 171 Intron NP_598375.2
XM_005262711.1 171 Intron XP_005262768.1
XM_005262713.2 171 Intron XP_005262770.1
XM_006714076.2 171 Intron XP_006714139.1
XM_011531580.2 171 Intron XP_011529882.1
XM_017007679.1 171 Intron XP_016863168.1
XM_017007680.1 171 Intron XP_016863169.1
XM_017007681.1 171 Intron XP_016863170.1
XM_017007682.1 171 Intron XP_016863171.1
XM_017007683.1 171 Intron XP_016863172.1
Gene
MRPS18C
Gene Name
mitochondrial ribosomal protein S18C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297767.1 171 Missense Mutation AGT,GGT S9G NP_001284696.1
NM_001297769.1 171 Missense Mutation AGT,GGT S9G NP_001284698.1
NM_001297770.1 171 Missense Mutation AGT,GGT S9G NP_001284699.1
NM_016067.3 171 Missense Mutation AGT,GGT S9G NP_057151.1

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