Product Details

SNP ID

rs6105762

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.20:17494045 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GCATTACCCCTACAGTGGCCCCAAA[G/T]ACATTTTATCCCATCAAGCCTGGGC

Phenotype

MIM: 603307 MIM: 162151

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

BFSP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs41276390] 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

BFSP1

Gene Name

beaded filament structural protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161705.1	2067	UTR 3			NP_001155177.1
NM_001195.4	2067	UTR 3			NP_001186.1
NM_001278606.1	2067	UTR 3			NP_001265535.1
NM_001278607.1	2067	UTR 3			NP_001265536.1
NM_001278608.1	2067	UTR 3			NP_001265537.1
XM_017028005.1	2067	UTR 3			XP_016883494.1

Gene

PCSK2

Gene Name

proprotein convertase subtilisin/kexin type 2

There are no transcripts associated with this gene.

View Full Product Details