Product Details

SNP ID

rs188798468

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:43337853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCACACAGTGGCGGAGAAGATGC[C/T]CTCCTGGGCCCTCTTCATGGTCACC

Phenotype

MIM: 159530

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MPL PubMed Links

Gene Details

Gene

MPL

Gene Name

MPL proto-oncogene, thrombopoietin receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005373.2	50	Missense Mutation	CCC,CTC	P2L	NP_005364.1
XM_017001320.1	50	Missense Mutation	CCC,CTC	P2L	XP_016856809.1

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