Product Details

SNP ID

rs146862170

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73498735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCACTGTTCTCCTGTGTCCAGAG[A/T]GGGAGGCATAACTGCTTTGCCTCCA

Phenotype

MIM: 114106

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PPP3CB PubMed Links

Gene Details

Gene

PPP3CB

Gene Name

protein phosphatase 3 catalytic subunit beta

There are no transcripts associated with this gene.

Gene

PPP3CB-AS1

Gene Name

PPP3CB antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

USP54

Gene Name

ubiquitin specific peptidase 54

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320437.1	4853	Missense Mutation	CAC,CTC	H1588L	NP_001307366.1
NM_001320441.1	4853	Intron			NP_001307370.1
NM_152586.3	4853	Missense Mutation	CAC,CTC	H1650L	NP_689799.3
XM_005269582.2	4853	Missense Mutation	CAC,CTC	H1546L	XP_005269639.1
XM_011539368.2	4853	Missense Mutation	CAC,CTC	H1615L	XP_011537670.1
XM_017015759.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871248.1
XM_017015760.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871249.1
XM_017015761.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871250.1
XM_017015762.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871251.1
XM_017015763.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871252.1
XM_017015764.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871253.1
XM_017015765.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871254.1
XM_017015766.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871255.1
XM_017015767.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871256.1
XM_017015768.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871257.1
XM_017015769.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871258.1
XM_017015770.1	4853	Missense Mutation	CAC,CTC	H1674L	XP_016871259.1
XM_017015771.1	4853	Missense Mutation	CAC,CTC	H1672L	XP_016871260.1
XM_017015772.1	4853	Missense Mutation	CAC,CTC	H1669L	XP_016871261.1
XM_017015773.1	4853	Missense Mutation	CAC,CTC	H1652L	XP_016871262.1
XM_017015774.1	4853	Missense Mutation	CAC,CTC	H1650L	XP_016871263.1
XM_017015775.1	4853	Missense Mutation	CAC,CTC	H1650L	XP_016871264.1
XM_017015776.1	4853	Missense Mutation	CAC,CTC	H1650L	XP_016871265.1
XM_017015777.1	4853	Missense Mutation	CAC,CTC	H1650L	XP_016871266.1
XM_017015778.1	4853	Missense Mutation	CAC,CTC	H1634L	XP_016871267.1
XM_017015779.1	4853	Missense Mutation	CAC,CTC	H1627L	XP_016871268.1
XM_017015780.1	4853	Missense Mutation	CAC,CTC	H1622L	XP_016871269.1
XM_017015781.1	4853	Missense Mutation	CAC,CTC	H1617L	XP_016871270.1
XM_017015782.1	4853	Missense Mutation	CAC,CTC	H1610L	XP_016871271.1
XM_017015783.1	4853	Missense Mutation	CAC,CTC	H1593L	XP_016871272.1
XM_017015784.1	4853	Missense Mutation	CAC,CTC	H1593L	XP_016871273.1
XM_017015785.1	4853	Missense Mutation	CAC,CTC	H1587L	XP_016871274.1
XM_017015786.1	4853	Missense Mutation	CAC,CTC	H1553L	XP_016871275.1

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