Product Details

SNP ID

rs200658675

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:63277633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTTCCGCGGTGGCCATGACTGCG[A/G]CCGTGTTCTTCGGCTGCGCCTTCAT

Phenotype

MIM: 607630 MIM: 613532

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

APH1B PubMed Links

Additional Information

For this assay, SNP(s) [rs189409411] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

APH1B

Gene Name

aph-1 homolog B, gamma-secretase subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145646.1	115	Missense Mutation	ACC,GCC	T4A	NP_001139118.1
NM_031301.3	115	Missense Mutation	ACC,GCC	T4A	NP_112591.2
XM_011522105.2	115	Missense Mutation	ACC,GCC	T4A	XP_011520407.1

Gene

RAB8B

Gene Name

RAB8B, member RAS oncogene family

There are no transcripts associated with this gene.

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