Product Details
- SNP ID
-
hCV923199
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:43949918 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGCTTGGAAGTCTGGGGCCGGCAGC[A/G]GTGACAGGAGGAACGGAAGGGTTGC
- Phenotype
-
MIM: 300658
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
NDP
PubMed Links
Gene Details
- Gene
- NDP
- Gene Name
- NDP, norrin cystine knot growth factor
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_000266.3 |
862 |
Missense Mutation |
CGC,TGC |
R95C |
NP_000257.1 |
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