Product Details

SNP ID

rs6080717

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.20:17494146 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CAATCATGGTCTCCACGATCACAGC[A/G]GTTTCTTCATATGTCTGAATGCTCT

Phenotype

MIM: 603307 MIM: 162151

Polymorphism

A/G, 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	1966	Silent Mutation	ACC,ACT	T517T	NP_001155177.1
NM_001195.4	1966	Silent Mutation	ACC,ACT	T642T	NP_001186.1
NM_001278606.1	1966	Silent Mutation	ACC,ACT	T503T	NP_001265535.1
NM_001278607.1	1966	Silent Mutation	ACC,ACT	T531T	NP_001265536.1
NM_001278608.1	1966	Silent Mutation	ACC,ACT	T503T	NP_001265537.1
XM_017028005.1	1966	Silent Mutation	ACC,ACT	T606T	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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