Product Details

SNP ID
rs200704552
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:17494499 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCTTTCTCCTGCAGACCCACCT[G/T]CCCATTCTCTAAAGGGGGCTTGGGT
Phenotype
MIM: 603307 MIM: 162151
Polymorphism
G/T, 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 1613 Missense Mutation AAG,CAG K400Q NP_001155177.1
NM_001195.4 1613 Missense Mutation AAG,CAG K525Q NP_001186.1
NM_001278606.1 1613 Missense Mutation AAG,CAG K386Q NP_001265535.1
NM_001278607.1 1613 Missense Mutation AAG,CAG K414Q NP_001265536.1
NM_001278608.1 1613 Missense Mutation AAG,CAG K386Q NP_001265537.1
XM_017028005.1 1613 Missense Mutation AAG,CAG K489Q 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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