Product Details

SNP ID
rs151128015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:17494087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCTGGGCATTTTAAGAGCTCTTC[C/T]CTCCTGATTTCTTCTTGTCTGACTT
Phenotype
MIM: 603307 MIM: 162151
Polymorphism
C/T, Transition 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 2025 Missense Mutation GAG,GGG E537G NP_001155177.1
NM_001195.4 2025 Missense Mutation GAG,GGG E662G NP_001186.1
NM_001278606.1 2025 Missense Mutation GAG,GGG E523G NP_001265535.1
NM_001278607.1 2025 Missense Mutation GAG,GGG E551G NP_001265536.1
NM_001278608.1 2025 Missense Mutation GAG,GGG E523G NP_001265537.1
XM_017028005.1 2025 Missense Mutation GAG,GGG E626G 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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