Product Details

SNP ID

rs148210947

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:83458474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTATATTTTAGGGTTTTGCTTCT[GATA/-]GATCTGCTTAAAGAGAATCAAGTC

Phenotype

MIM: 611143 MIM: 606769 MIM: 611983

Polymorphism

GATA/-, Insertion/deletion

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

There are no transcripts associated with this gene.

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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