Product Details

SNP ID

rs202220329

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:59210259 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCGAGAAGTTCTCTCTTGTGAAT[A/G]CGGTGTGCGACCGACAGGTCTTTCC

Phenotype

MIM: 615920 MIM: 613175

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PRR11 PubMed Links

Gene Details

Gene

PRR11

Gene Name

proline rich 11

There are no transcripts associated with this gene.

Gene

SMG8

Gene Name

SMG8, nonsense mediated mRNA decay factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018149.6	250	Missense Mutation	ACG,GCG	T70A	NP_060619.4

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