Product Details

SNP ID

rs138159419

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:63277645 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCATGACTGCGGCCGTGTTCTTC[C/G]GCTGCGCCTTCATTGCCTTCGGGCC

Phenotype

MIM: 607630 MIM: 613532

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APH1B PubMed Links

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	127	Missense Mutation	CGC,GGC	R8G	NP_001139118.1
NM_031301.3	127	Missense Mutation	CGC,GGC	R8G	NP_112591.2
XM_011522105.2	127	Missense Mutation	CGC,GGC	R8G	XP_011520407.1

Gene

RAB8B

Gene Name

RAB8B, member RAS oncogene family

There are no transcripts associated with this gene.

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