Product Details

SNP ID

rs149937193

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:202275188 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAACTCCAGAGAAAGCAAACAAA[A/G]TGTAAGTACTCTTGAAATCAATAAT

Phenotype

MIM: 616742

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NOP58 PubMed Links

Gene Details

Gene

NOP58

Gene Name

NOP58 ribonucleoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015934.4	347	Missense Mutation	ATA,GTA	I41V	NP_057018.1

Gene

SNORD70

Gene Name

small nucleolar RNA, C/D box 70

There are no transcripts associated with this gene.

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