Product Details

SNP ID

rs35485382

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:132681990 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACGTGTCTCCACTTGATGAATGGC[A/G]TGAAGGAGCTTTTCCACCCAAGAGT

Phenotype

MIM: 608002 MIM: 610552

Polymorphism

A/G, 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	4017	Missense Mutation	CGC,TGC	R1305C	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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