Product Details

SNP ID
rs492933
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.X:68044002 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
AAATGGCAAGCCAAGGACTTAACAA[C/T]TGCCAACTAAAACACAAATCCTTCA
Phenotype
MIM: 300127
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OPHN1 PubMed Links

Gene Details

Gene
OPHN1
Gene Name
oligophrenin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002547.2 5619 UTR 3 NP_002538.1
XM_005262270.1 5619 UTR 3 XP_005262327.1
XM_006724653.2 5619 Intron XP_006724716.1
XM_011530961.1 5619 UTR 3 XP_011529263.1
XM_017029555.1 5619 Intron XP_016885044.1

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