Product Details

SNP ID

rs114513239

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:83463535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCCTCTCCTTTTCTCAATTTCT[C/T]GTTTTAATCTGTTTACATCCTTTAC

Phenotype

MIM: 611143 MIM: 606769 MIM: 611983

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM175A PubMed Links

Gene Details

Gene

FAM175A

Gene Name

family with sequence similarity 175 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139076.2	726	Intron			NP_620775.2
XM_005263280.4	726	Missense Mutation	CAA,CGA	Q203R	XP_005263337.1
XM_017008694.1	726	Missense Mutation	CAA,CGA	Q143R	XP_016864183.1

Gene

HELQ

Gene Name

helicase, POLQ-like

There are no transcripts associated with this gene.

Gene

MRPS18C

Gene Name

mitochondrial ribosomal protein S18C

There are no transcripts associated with this gene.

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