Product Details

SNP ID
rs201876553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43874342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGGCTGTAGGCCTCGTCTGCA[A/T]TCACAGCTACTCGCTCATTGCTATC
Phenotype
MIM: 616309
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
FRMD5 PubMed Links

Gene Details

Gene
FRMD5
Gene Name
FERM domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286490.1 1496 Missense Mutation AAT,ATT N325I NP_001273419.1
NM_001286491.1 1496 Missense Mutation AAT,ATT N185I NP_001273420.1
NM_001322949.1 1496 Missense Mutation AAT,ATT N419I NP_001309878.1
NM_001322950.1 1496 Missense Mutation AAT,ATT N419I NP_001309879.1
NM_001322951.1 1496 Missense Mutation AAT,ATT N384I NP_001309880.1
NM_032892.4 1496 Missense Mutation AAT,ATT N419I NP_116281.2
XM_005254730.3 1496 Missense Mutation AAT,ATT N419I XP_005254787.1
Gene
PIN4P1
Gene Name
peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1
There are no transcripts associated with this gene.

Gene
WDR76
Gene Name
WD repeat domain 76
There are no transcripts associated with this gene.

View Full Product Details