Product Details

SNP ID
rs80269731
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83456981 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTAAGAATTTTTTTTTCTATTA[A/G]TAAGGCCTTTGCAAATATGACCAAA
Phenotype
MIM: 611143 MIM: 606769 MIM: 611983
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAM175A PubMed Links

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 Intron NP_001284684.1
NM_001297756.1 Intron NP_001284685.1
NM_001297757.1 Intron NP_001284686.1
NM_001297758.1 Intron NP_001284687.1
NM_001297759.1 Intron NP_001284688.1
NM_133636.3 Intron NP_598375.2
Gene
MRPS18C
Gene Name
mitochondrial ribosomal protein S18C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297767.1 Intron NP_001284696.1
NM_001297769.1 Intron NP_001284698.1
NM_001297770.1 Intron NP_001284699.1
NM_016067.3 Intron NP_057151.1

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