Product Details

SNP ID

rs140430522

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3765209 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGAAAAGGTGCAGTGACCAGCGA[A/G]GCCCTCAAGGACCCCGACGTATGCA

Phenotype

MIM: 604262 MIM: 611858 MIM: 610362

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APBA3 PubMed Links

Gene Details

Gene

APBA3

Gene Name

amyloid beta precursor protein binding family A member 3

There are no transcripts associated with this gene.

Gene

MRPL54

Gene Name

mitochondrial ribosomal protein L54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172251.2	196	Silent Mutation	GAA,GAG	E54E	NP_758455.1

Gene

RAX2

Gene Name

retina and anterior neural fold homeobox 2

There are no transcripts associated with this gene.

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