Product Details

SNP ID
rs202074612
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:22038492 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGAGTCAAGGTCTCTTAAGTCTC[C/G]AAGCTAAACAGGAGTACTGCCTGAA
Phenotype
MIM: 300550
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PHEX PubMed Links

Gene Details

Gene
PHEX
Gene Name
phosphate regulating endopeptidase homolog, X-linked
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000444.5 704 Missense Mutation CAA,GAA Q48E NP_000435.3
NM_001282754.1 704 Missense Mutation CAA,GAA Q48E NP_001269683.1
XM_011545533.1 704 Intron XP_011543835.1
XM_011545536.2 704 Intron XP_011543838.1
XM_017029579.1 704 Intron XP_016885068.1

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