Product Details

SNP ID

rs199945638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:60222427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTACTGGTCTAGGTAAGGCCAG[C/G]TTTGCTCCATACCAGTGATAAAGTG

Phenotype

MIM: 607740

Polymorphism

C/G, 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	1231	Missense Mutation	AAC,AAG	N577K	NP_115971.2
XM_011525371.1	1231	Missense Mutation	AAC,AAG	N593K	XP_011523673.1
XM_011525372.1	1231	Missense Mutation	AAC,AAG	N593K	XP_011523674.1
XM_011525373.1	1231	Missense Mutation	AAC,AAG	N577K	XP_011523675.1
XM_011525374.1	1231	Missense Mutation	AAC,AAG	N574K	XP_011523676.1
XM_011525375.1	1231	Missense Mutation	AAC,AAG	N567K	XP_011523677.1
XM_011525376.1	1231	Missense Mutation	AAC,AAG	N574K	XP_011523678.1
XM_011525378.1	1231	Missense Mutation	AAC,AAG	N531K	XP_011523680.1
XM_011525379.2	1231	Missense Mutation	AAC,AAG	N286K	XP_011523681.1
XM_017025233.1	1231	Missense Mutation	AAC,AAG	N531K	XP_016880722.1
XM_017025234.1	1231	Missense Mutation	AAC,AAG	N247K	XP_016880723.1

View Full Product Details