Product Details

SNP ID

rs77048445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3779162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTGCACAAGCTTCTTGCTCTCCA[G/T]GTACTCCATGCCCTCGGCCACGTGC

Phenotype

MIM: 600038 MIM: 610362

Polymorphism

G/T, Transversion 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	1427	Missense Mutation	ATG,CTG	M344L	NP_002369.2
NM_139354.2	1427	Missense Mutation	ATG,CTG	M302L	NP_647611.1
NM_139355.2	1427	Missense Mutation	ATG,CTG	M343L	NP_647612.1
XM_011528018.1	1427	Missense Mutation	ATG,CTG	M343L	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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