Product Details

SNP ID

rs113178142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15161390 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCCAGCGTCAGCTTCTTGCCCC[C/G]CCCCCGGGGCCCCTGCGGCCCCAGC

Phenotype

MIM: 600276

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NOTCH3 PubMed Links

Gene Details

Gene

NOTCH3

Gene Name

notch 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000435.2	6097	Missense Mutation	CGG,GGG	R2080G	NP_000426.2
XM_005259924.4	6097	Missense Mutation	CGG,GGG	R2028G	XP_005259981.1

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