Product Details

SNP ID

rs11550996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35869782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTCTCGACGCTGTCTCCGGGACC[C/G]GCAGCGCGTGCTGGAGTACTGCAGA

Phenotype

MIM: 104775 MIM: 607762

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

APLP1 PubMed Links

Gene Details

Gene

APLP1

Gene Name

amyloid beta precursor like protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024807.2	455	Missense Mutation	CCG,CGG	P88R	NP_001019978.1
NM_005166.4	455	Missense Mutation	CCG,CGG	P88R	NP_005157.1
XM_017026737.1	455	Missense Mutation	CCG,CGG	P88R	XP_016882226.1
XM_017026738.1	455	Missense Mutation	CCG,CGG	P88R	XP_016882227.1

Gene

KIRREL2

Gene Name

kin of IRRE like 2 (Drosophila)

There are no transcripts associated with this gene.

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