Product Details

SNP ID

rs140305689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35826600 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGCCACCTGGTCATAGATTCCTC[C/T]TGGATCCTGATATGTGTCTTCAGGC

Phenotype

MIM: 602716

Polymorphism

C/T, 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	3796	Missense Mutation	AGA,GGA	R1214G	NP_004637.1

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