Product Details

SNP ID

rs199777870

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136496426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGGCTGCACGTCTGCCTGGCTC[A/G]GCTCTCCACTCAGGAAGCTCCGGCC

Phenotype

MIM: 190198

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOTCH1 PubMed Links

Gene Details

Gene

NOTCH1

Gene Name

notch 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017617.4	6605	Missense Mutation	CCG,CTG	P2438L	NP_060087.3
XM_011518717.2	6605	Missense Mutation	CCG,CTG	P2197L	XP_011517019.2

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