Product Details

SNP ID
rs104894878
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:43949840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCAGTGACAGGAGAGGATGTACC[G/A]GTAGGTGGCAGTGAGTCGCATGCCC
Phenotype
MIM: 300658
Polymorphism
G/A, 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_000266.3 940 Missense Mutation CGG,TGG R121W NP_000257.1

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