Product Details

SNP ID

rs144640797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:10620250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTACTTGTAACACAGCCTCGTCA[C/T]CTGCAGTTTTAATGGCAGCTTCTAG

Phenotype

MIM: 611433

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAGOHB PubMed Links

Gene Details

Gene

MAGOHB

Gene Name

mago homolog B, exon junction complex core component

There are no transcripts associated with this gene.

Gene

STYK1

Gene Name

serine/threonine/tyrosine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018423.2	1684	Missense Mutation	GAT,GGT	D388G	NP_060893.2
XM_005253417.2	1684	Missense Mutation	GAT,GGT	D388G	XP_005253474.1
XM_011520736.1	1684	Missense Mutation	GAT,GGT	D388G	XP_011519038.1
XM_011520737.2	1684	Missense Mutation	GAT,GGT	D388G	XP_011519039.1
XM_011520738.2	1684	Missense Mutation	GAT,GGT	D388G	XP_011519040.1
XM_017019579.1	1684	Missense Mutation	GAT,GGT	D256G	XP_016875068.1

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