Product Details

SNP ID

rs143197714

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:119915532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTGACTGGGTGTTCGCTCAGCA[C/G]CATTTGAGGAAGCATAACTGTGCTG

Phenotype

MIM: 600275

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NOTCH2 PubMed Links

Gene Details

Gene

NOTCH2

Gene Name

notch 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001200001.1	7487	Intron			NP_001186930.1
NM_024408.3	7487	Missense Mutation	GCT,GGT	A2397G	NP_077719.2
XM_005270901.3	7487	Missense Mutation	GCT,GGT	A2358G	XP_005270958.1
XM_011541519.2	7487	Missense Mutation	GCT,GGT	A2393G	XP_011539821.1
XM_011541520.2	7487	Missense Mutation	GCT,GGT	A2358G	XP_011539822.1
XM_017001372.1	7487	Missense Mutation	GCT,GGT	A2381G	XP_016856861.1
XM_017001373.1	7487	Missense Mutation	GCT,GGT	A2358G	XP_016856862.1

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