Product Details

SNP ID
rs35240811
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35826642 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCAGGCCAGTGGAGGTCCCAGG[A/G]TCCCTGACAGGCAAAAAGTGGAGTT
Phenotype
MIM: 602716
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NPHS1 PubMed Links

Gene Details

Gene
NPHS1
Gene Name
NPHS1, nephrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004646.3 3754 Missense Mutation CCC,TCC P1200S NP_004637.1

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