Product Details

SNP ID

rs141231747

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15161386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGCAGGCCAGCGTCAGCTTCTTG[C/A]CCCGCCCCCGGGGCCCCTGCGGCCC

Phenotype

MIM: 600276

Polymorphism

C/A, 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	6101	Missense Mutation			NP_000426.2
XM_005259924.4	6101	Missense Mutation			XP_005259981.1

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