Product Details

SNP ID
rs6774366
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:132681125 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTGTTTCACTGAAGACAATTTGAAT[C/T]GTTCATAAACATTAACCCTTTAATC
Phenotype
MIM: 608002 MIM: 610552
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NPHP3 PubMed Links

Gene Details

Gene
NPHP3
Gene Name
nephronophthisis 3 (adolescent)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153240.4 4882 UTR 3 NP_694972.3
Gene
NPHP3-ACAD11
Gene Name
NPHP3-ACAD11 readthrough (NMD candidate)
There are no transcripts associated with this gene.

Gene
UBA5
Gene Name
ubiquitin like modifier activating enzyme 5
There are no transcripts associated with this gene.

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