Product Details

SNP ID
rs187774579
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:154349554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTCGTGGAGGCTGTGGTTGCTGA[C/T]GAGACGGGGGCCTGCAAGGCAGAGT
Phenotype
MIM: 300017
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FLNA PubMed Links

Gene Details

Gene
FLNA
Gene Name
filamin A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001110556.1 7610 Missense Mutation ATC,GTC I2522V NP_001104026.1
NM_001456.3 7610 Missense Mutation ATC,GTC I2514V NP_001447.2
XM_011531127.1 7610 Missense Mutation ATC,GTC I2490V XP_011529429.1
XM_011531128.1 7610 Missense Mutation ATC,GTC I2482V XP_011529430.1
XM_011531129.1 7610 Missense Mutation ATC,GTC I2464V XP_011529431.1
XM_011531130.1 7610 Missense Mutation ATC,GTC I2456V XP_011529432.1
XM_011531131.1 7610 Missense Mutation ATC,GTC I2455V XP_011529433.1
Gene
LOC105373386
Gene Name
uncharacterized LOC105373386
There are no transcripts associated with this gene.

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