Product Details
- SNP ID
-
rs200521790
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:110129201 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGCTACCCACCCTGAGAGCATCCAT[C/G]ACATCAGGCTGCTCCAAGAGCATGG
- Phenotype
-
MIM: 607100
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
NPHP1
PubMed Links
Gene Details
- Gene
- NPHP1
- Gene Name
- nephrocystin 1
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000272.3 |
1912 |
Silent Mutation |
GTC,GTG |
V623V |
NP_000263.2 |
| NM_001128178.1 |
1912 |
Silent Mutation |
GTC,GTG |
V567V |
NP_001121650.1 |
| NM_001128179.1 |
1912 |
Silent Mutation |
GTC,GTG |
V504V |
NP_001121651.1 |
| NM_207181.2 |
1912 |
Silent Mutation |
GTC,GTG |
V622V |
NP_997064.2 |
| XM_005263676.1 |
1912 |
Silent Mutation |
GTC,GTG |
V567V |
XP_005263733.1 |
| XM_005263677.1 |
1912 |
Silent Mutation |
GTC,GTG |
V566V |
XP_005263734.1 |
| XM_005263678.2 |
1912 |
Silent Mutation |
GTC,GTG |
V623V |
XP_005263735.1 |
| XM_005263679.1 |
1912 |
Silent Mutation |
GTC,GTG |
V566V |
XP_005263736.1 |
| XM_006712551.1 |
1912 |
Silent Mutation |
GTC,GTG |
V623V |
XP_006712614.1 |
| XM_006712552.2 |
1912 |
Intron |
|
|
XP_006712615.1 |
| XM_011511244.1 |
1912 |
Silent Mutation |
GTC,GTG |
V623V |
XP_011509546.1 |
| XM_017004218.1 |
1912 |
Silent Mutation |
GTC,GTG |
V567V |
XP_016859707.1 |
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