Product Details

SNP ID

rs55766125

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:10620215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCACAGCTGCATACAGTTCAGGTA[C/G]CACCAACTCTGGTACTTGTAACACA

Phenotype

MIM: 611433

Polymorphism

C/G, Transversion 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	1719	Missense Mutation	CTA,GTA	L400V	NP_060893.2
XM_005253417.2	1719	Missense Mutation	CTA,GTA	L400V	XP_005253474.1
XM_011520736.1	1719	Missense Mutation	CTA,GTA	L400V	XP_011519038.1
XM_011520737.2	1719	Missense Mutation	CTA,GTA	L400V	XP_011519039.1
XM_011520738.2	1719	Missense Mutation	CTA,GTA	L400V	XP_011519040.1
XM_017019579.1	1719	Missense Mutation	CTA,GTA	L268V	XP_016875068.1

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