Product Details

SNP ID

rs1045236

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3751266 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACACTCTGCCCATTGATCTCAA[A/T]GATGCGGTGGCCGACGCGGATGCCC

Phenotype

MIM: 604262 MIM: 612689

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

APBA3 PubMed Links

Gene Details

Gene

APBA3

Gene Name

amyloid beta precursor protein binding family A member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004886.3	1882	Missense Mutation	ATT,TTT	I527F	NP_004877.1
XM_006722950.3	1882	Silent Mutation	TCA,TCT	S561S	XP_006723013.1
XM_006722951.3	1882	Silent Mutation	TCA,TCT	S319S	XP_006723014.1

Gene

TJP3

Gene Name

tight junction protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001267560.1	1882	Intron			NP_001254489.1
NM_001267561.1	1882	Intron			NP_001254490.1

View Full Product Details