Product Details

SNP ID

rs143942649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:128835570 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCGCCCTGGTGGACAACTGCGC[C/T]CCCGGTGAGTGGGCCAGTGAGCACA

Phenotype

MIM: 102565

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FLNC PubMed Links

Gene Details

Gene

FLNC

Gene Name

filamin C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127487.1	806	Silent Mutation	GCC,GCT	A199A	NP_001120959.1
NM_001458.4	806	Silent Mutation	GCC,GCT	A199A	NP_001449.3

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