Product Details

SNP ID
rs375582024
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:48184575 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGGTTAAAACATACCTTTTGACT[G/A]AGAAATAATTAATTCTATGTTGTCA
Phenotype
MIM: 613323
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
FRMPD2 PubMed Links

Gene Details

Gene
FRMPD2
Gene Name
FERM and PDZ domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018071.3 2547 Nonsense Mutation CAG,TAG Q859* NP_001018081.3
NM_001042512.2 2547 Intron NP_001035977.2
NM_001318191.1 2547 Nonsense Mutation CAG,TAG Q834* NP_001305120.1
XM_011539327.2 2547 Intron XP_011537629.1
XM_017015744.1 2547 Intron XP_016871233.1

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