Product Details

SNP ID
rs148119487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:17494133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTTTGTCTTTCCAATCATGGTCT[C/G]CACGATCACAGCGGTTTCTTCATAT
Phenotype
MIM: 603307 MIM: 162151
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BFSP1 PubMed Links

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 1979 Missense Mutation CAG,GAG Q522E NP_001155177.1
NM_001195.4 1979 Missense Mutation CAG,GAG Q647E NP_001186.1
NM_001278606.1 1979 Missense Mutation CAG,GAG Q508E NP_001265535.1
NM_001278607.1 1979 Missense Mutation CAG,GAG Q536E NP_001265536.1
NM_001278608.1 1979 Missense Mutation CAG,GAG Q508E NP_001265537.1
XM_017028005.1 1979 Missense Mutation CAG,GAG Q611E 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