Product Details

SNP ID
rs200912092
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3778382 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGACAGCCCTCGGGGGGTTCCATG[C/T]GGTACCCCTTCTCCACGGCCTCCGA
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 1725 Missense Mutation CAC,CGC H443R NP_002369.2
NM_139354.2 1725 Missense Mutation CAC,CGC H401R NP_647611.1
NM_139355.2 1725 Missense Mutation CAC,CGC H442R NP_647612.1
XM_011528018.1 1725 Missense Mutation CAC,CGC H442R 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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