Product Details

SNP ID

rs117842116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:133400513 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCGGATGCACCTGGAGAGCAAA[A/G]CCACACGCTCGGGAAACTGGGGTGC

Phenotype

MIM: 603212

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BFSP2 PubMed Links

Gene Details

Gene

BFSP2

Gene Name

beaded filament structural protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003571.3	2632	Missense Mutation	ACC,GCC	T144A	NP_003562.1
XM_017007315.1	2632	Missense Mutation	ACC,GCC	T144A	XP_016862804.1

Gene

TMEM108

Gene Name

transmembrane protein 108

There are no transcripts associated with this gene.

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