Product Details

SNP ID

rs186747150

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:8254247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTACTGCTGGATGATGTTGCTC[A/G]GGAGTCCTGGCTCCTTCCTGGCTCC

Phenotype

MIM: 613129 MIM: 602133

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CTC1 PubMed Links

Gene Details

Gene

CTC1

Gene Name

CTS telomere maintenance complex component 1

There are no transcripts associated with this gene.

Gene

PFAS

Gene Name

phosphoribosylformylglycinamidine synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012393.2	365	Missense Mutation	CAG,CGG	Q75R	NP_036525.1
XM_006721546.2	365	Missense Mutation	CAG,CGG	Q75R	XP_006721609.1
XM_017024760.1	365	UTR 5			XP_016880249.1

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