Product Details

SNP ID
rs146304737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:48184809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTTTTGCTTTTTCTGCTGGTCCT[C/G]CAGGTATAATAGAAGATATAAAAAT
Phenotype
MIM: 613323
Polymorphism
C/G, Transversion 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 2404 Missense Mutation GCA,GGA A811G NP_001018081.3
NM_001042512.2 2404 Intron NP_001035977.2
NM_001318191.1 2404 Missense Mutation GCA,GGA A786G NP_001305120.1
XM_011539327.2 2404 Intron XP_011537629.1
XM_017015744.1 2404 Intron XP_016871233.1

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