Product Details

SNP ID

rs138553345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3771582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGCCAGCTCCTCACGGCTGTAC[A/C]CATCCGGGTAGTGAGAGGCCTCGAA

Phenotype

MIM: 604262 MIM: 600038 MIM: 611858 MIM: 610362

Polymorphism

A/C, Transversion 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

MATK

Gene Name

megakaryocyte-associated tyrosine kinase

There are no transcripts associated with this gene.

Gene

MRPL54

Gene Name

mitochondrial ribosomal protein L54

There are no transcripts associated with this gene.

Gene

RAX2

Gene Name

retina and anterior neural fold homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319074.1	229	Missense Mutation	GGG,GTG	G100V	NP_001306003.1
NM_032753.3	229	Missense Mutation	GGG,GTG	G54V	NP_116142.1

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