Product Details

SNP ID

rs74932642

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:16748445 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTCCTCCCGGGTCTTGTGGCTG[T/G]ATGTGCTGTGCATGGAATATTTATG

Phenotype

MIM: 606067 MIM: 603520

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

OTOR PubMed Links

Gene Details

Gene

OTOR

Gene Name

otoraplin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020157.3	93	Missense Mutation	GGA,GTA	G15V	NP_064542.1
XM_017027959.1	93	Missense Mutation	GGA,GTA	G15V	XP_016883448.1

Gene

SNRPB2

Gene Name

small nuclear ribonucleoprotein polypeptide B2

There are no transcripts associated with this gene.

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