Product Details

SNP ID

rs201459758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3779056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCGGCTTGAGTCTAGCCCCTTC[C/T]GCTCGGCTTTGGCCAGGCCAAAGTC

Phenotype

MIM: 600038 MIM: 610362

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MATK PubMed Links

Gene Details

Gene

MATK

Gene Name

megakaryocyte-associated tyrosine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002378.3	1533	Missense Mutation	CAG,CGG	Q379R	NP_002369.2
NM_139354.2	1533	Missense Mutation	CAG,CGG	Q337R	NP_647611.1
NM_139355.2	1533	Missense Mutation	CAG,CGG	Q378R	NP_647612.1
XM_011528018.1	1533	Missense Mutation	CAG,CGG	Q378R	XP_011526320.1

Gene

RAX2

Gene Name

retina and anterior neural fold homeobox 2

There are no transcripts associated with this gene.

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