Product Details

SNP ID

rs6736360

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:189884023 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAACATTTACACCCAGATGCTTAAT[A/C]AGACAAAGTAATGACTGGTAATTTA

Phenotype

MIM: 615117 MIM: 600258

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

C2orf88 PubMed Links

Additional Information

For this assay, SNP(s) [rs138997788] 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

C2orf88

Gene Name

chromosome 2 open reading frame 88

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042519.1		Intron			NP_001035984.1
NM_001042520.1		Intron			NP_001035985.1
NM_001042521.1		Intron			NP_001035986.1
NM_032321.2		Intron			NP_115697.2
XM_005246905.1		Intron			XP_005246962.1
XM_006712795.2		Intron			XP_006712858.1
XM_011511982.1		Intron			XP_011510284.1
XM_011511983.1		Intron			XP_011510285.1
XM_011511984.2		Intron			XP_011510286.1
XM_011511985.2		Intron			XP_011510287.1
XM_011511986.2		Intron			XP_011510288.1
XM_017005096.1		Intron			XP_016860585.1

Gene

PMS1

Gene Name

PMS1 homolog 1, mismatch repair system component

There are no transcripts associated with this gene.

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