Product Details

SNP ID

rs199695331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:60223535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTTGTTATTGTCAGAAGTGTTA[A/T]GTTGTCGAGCAAAGCAAACATCTGC

Phenotype

MIM: 607740

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SCARNA20 PubMed Links

Gene Details

Gene

SCARNA20

Gene Name

small Cajal body-specific RNA 20

There are no transcripts associated with this gene.

Gene

USP32

Gene Name

ubiquitin specific peptidase 32

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032582.3	984	Missense Mutation	CAT,CTT	H495L	NP_115971.2
XM_011525371.1	984	Missense Mutation	CAT,CTT	H511L	XP_011523673.1
XM_011525372.1	984	Missense Mutation	CAT,CTT	H511L	XP_011523674.1
XM_011525373.1	984	Missense Mutation	CAT,CTT	H495L	XP_011523675.1
XM_011525374.1	984	Missense Mutation	CAT,CTT	H492L	XP_011523676.1
XM_011525375.1	984	Missense Mutation	CAT,CTT	H485L	XP_011523677.1
XM_011525376.1	984	Missense Mutation	CAT,CTT	H492L	XP_011523678.1
XM_011525378.1	984	Missense Mutation	CAT,CTT	H449L	XP_011523680.1
XM_011525379.2	984	Missense Mutation	CAT,CTT	H204L	XP_011523681.1
XM_017025233.1	984	Missense Mutation	CAT,CTT	H449L	XP_016880722.1
XM_017025234.1	984	Missense Mutation	CAT,CTT	H165L	XP_016880723.1

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