Product Details

SNP ID

rs182522714

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136496082 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGGCGCGCCGTTTACTTGAAGG[A/C]CTCCGGAATGCGGGCGATCTGGGAC

Phenotype

MIM: 190198

Polymorphism

A/C, Transversion 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	6949	Missense Mutation	GCC,TCC	A2553S	NP_060087.3
XM_011518717.2	6949	Missense Mutation	GCC,TCC	A2312S	XP_011517019.2

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