Product Details

SNP ID

rs8996

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:11180751 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAAGCTTCAGGGCCTCAAGAAAAA[C/T]GAGAAACGAGCACAAAATCAGGTTG

Phenotype

MIM: 604002

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PQLC3 PubMed Links

Additional Information

For this assay, SNP(s) [rs115896923] are located under a probe 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

PQLC3

Gene Name

PQ loop repeat containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282710.1	6905	Intron			NP_001269639.1
NM_001282711.1	6905	Intron			NP_001269640.1
NM_001282712.1	6905	Intron			NP_001269641.1
NM_152391.4	6905	Intron			NP_689604.1

Gene

ROCK2

Gene Name

Rho associated coiled-coil containing protein kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321643.1	6905	UTR 3			NP_001308572.1
NM_004850.4	6905	UTR 3			NP_004841.2
XM_005246190.3	6905	UTR 3			XP_005246247.1
XM_011510417.2	6905	UTR 3			XP_011508719.1
XM_017005378.1	6905	Intron			XP_016860867.1
XM_017005379.1	6905	UTR 3			XP_016860868.1

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