Product Details

SNP ID

hCV623478

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:11378211 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGTGTCCATGGACGCAAGAGCT[A/G]GGAGCTGGGGTCCAGGATAGTGTAC

Phenotype

MIM: 133171 MIM: 614536

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EPOR PubMed Links

Gene Details

Gene

EPOR

Gene Name

erythropoietin receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000121.3	1435	Nonsense Mutation	CAG,TAG	Q434*	NP_000112.1

Gene

SWSAP1

Gene Name

SWIM-type zinc finger 7 associated protein 1

There are no transcripts associated with this gene.

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