Product Details

SNP ID
rs192322553
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:132078512 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGACCATCTGGGCACCTGGGGT[C/G]GCTTGTCCACATAAAAAAAGACCTG
Phenotype
MIM: 300628 MIM: 300547
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
FRMD7 PubMed Links

Gene Details

Gene
FRMD7
Gene Name
FERM domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001306193.1 1645 Missense Mutation CCA,CGA P487R NP_001293122.1
NM_194277.2 1645 Missense Mutation CCA,CGA P502R NP_919253.1
XM_017029947.1 1645 Missense Mutation CCA,CGA P486R XP_016885436.1
XM_017029948.1 1645 Missense Mutation CCA,CGA P417R XP_016885437.1
XM_017029949.1 1645 Missense Mutation CCA,CGA P344R XP_016885438.1
Gene
STK26
Gene Name
serine/threonine protein kinase 26
There are no transcripts associated with this gene.

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