Product Details

SNP ID

rs187500583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:29123467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGGAGGGCACAGTGTGAGTGTT[C/G]CAAAAACTTGGCCACCAAAACCCTG

Phenotype

MIM: 602712

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APBA2 PubMed Links

Gene Details

Gene

APBA2

Gene Name

amyloid beta precursor protein binding family A member 2

There are no transcripts associated with this gene.

Gene

FAM189A1

Gene Name

family with sequence similarity 189 member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015307.1	1649	Missense Mutation	CAA,GAA	Q498E	NP_056122.1
XM_011521407.2	1649	Missense Mutation	CAA,GAA	Q535E	XP_011519709.1

View Full Product Details