Product Details

SNP ID

rs145017887

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:17494136 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTCTTTCCAATCATGGTCTCCA[C/T]GATCACAGCGGTTTCTTCATATGTC

Phenotype

MIM: 603307 MIM: 162151

Polymorphism

C/T, Transition 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	1976	Missense Mutation			NP_001155177.1
NM_001195.4	1976	Missense Mutation			NP_001186.1
NM_001278606.1	1976	Missense Mutation			NP_001265535.1
NM_001278607.1	1976	Missense Mutation			NP_001265536.1
NM_001278608.1	1976	Missense Mutation			NP_001265537.1
XM_017028005.1	1976	Missense Mutation			XP_016883494.1

Gene

PCSK2

Gene Name

proprotein convertase subtilisin/kexin type 2

There are no transcripts associated with this gene.

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