Product Details

SNP ID

rs148778343

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:140560429 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGATGAGGCCAAAGGTGTGTGGGT[C/T]GCGGCCAACACCAATAAATGTCACA

Phenotype

MIM: 602711 MIM: 603819

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

APBB3 PubMed Links

Gene Details

Gene

APBB3

Gene Name

amyloid beta precursor protein binding family B member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006051.3	1461	Missense Mutation	AAC,GAC	N377D	NP_006042.3
NM_133172.2	1461	Missense Mutation	AAC,GAC	N375D	NP_573418.2
NM_133173.2	1461	Missense Mutation	AAC,GAC	N370D	NP_573419.2
NM_133174.2	1461	Missense Mutation	AAC,GAC	N368D	NP_573420.2

Gene

MIR6831

Gene Name

microRNA 6831

There are no transcripts associated with this gene.

Gene

SLC35A4

Gene Name

solute carrier family 35 member A4

There are no transcripts associated with this gene.

Gene

SRA1

Gene Name

steroid receptor RNA activator 1

There are no transcripts associated with this gene.

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