Product Details

SNP ID

rs139134641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:43950026 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCGCACCTGGCCAGGAGCACCA[G/T]CTGGGGAAAGAAAAGGAGGTGGTTA

Phenotype

MIM: 300658

Polymorphism

G/T, Transversion 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	754	Missense Mutation	ATG,CTG	M59L	NP_000257.1

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