Product Details

SNP ID

rs104894880

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:43950020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGCCCCTCGCACCTGGCCAGGA[G/A]CACCATCTGGGGAAAGAAAAGGAGG

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	760	Missense Mutation	CTC,TTC	L61F	NP_000257.1

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