Product Details

SNP ID

rs185816798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:133400462 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGGCCAAAGTGCACGCCCTTGAG[C/G]AAGTCAGTCAGGAGCTGGAAACACA

Phenotype

MIM: 603212

Polymorphism

C/G, Transversion 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	2581	Missense Mutation	CAA,GAA	Q127E	NP_003562.1
XM_017007315.1	2581	Missense Mutation	CAA,GAA	Q127E	XP_016862804.1

Gene

TMEM108

Gene Name

transmembrane protein 108

There are no transcripts associated with this gene.

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