Product Details
- SNP ID
-
rs116744687
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:35826553 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCCTCAGCTCGAAGGGCAGAGAATC[A/G]GGTTCCAGAGTGTCCAAGTCTCCGG
- 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 |
3843 |
Silent Mutation |
CCC,CCT |
P1229P |
NP_004637.1 |
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