Product Details

SNP ID
rs193127566
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3778282 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGTAGCTCCCGGGCCAGCTTCTC[C/G]GCCAGTTTGCGGAAGGGTGGCCGGC
Phenotype
MIM: 600038 MIM: 610362
Polymorphism
C/G, 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 1825 Silent Mutation GCC,GCG A476A NP_002369.2
NM_139354.2 1825 Silent Mutation GCC,GCG A434A NP_647611.1
NM_139355.2 1825 Silent Mutation GCC,GCG A475A NP_647612.1
XM_011528018.1 1825 Silent Mutation GCC,GCG A475A 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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