Product Details

SNP ID

rs149039456

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:73499040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAATCTGGTCCCAATATGCTGGTT[G/T]GTCTCTGACCAGGGTGCCCAGGAGT

Phenotype

MIM: 114106

Polymorphism

G/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	4548	Silent Mutation	ACA,ACC	T1486T	NP_001307366.1
NM_001320441.1	4548	Intron			NP_001307370.1
NM_152586.3	4548	Silent Mutation	ACA,ACC	T1548T	NP_689799.3
XM_005269582.2	4548	Silent Mutation	ACA,ACC	T1444T	XP_005269639.1
XM_011539368.2	4548	Silent Mutation	ACA,ACC	T1513T	XP_011537670.1
XM_017015759.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871248.1
XM_017015760.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871249.1
XM_017015761.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871250.1
XM_017015762.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871251.1
XM_017015763.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871252.1
XM_017015764.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871253.1
XM_017015765.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871254.1
XM_017015766.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871255.1
XM_017015767.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871256.1
XM_017015768.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871257.1
XM_017015769.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871258.1
XM_017015770.1	4548	Silent Mutation	ACA,ACC	T1572T	XP_016871259.1
XM_017015771.1	4548	Silent Mutation	ACA,ACC	T1570T	XP_016871260.1
XM_017015772.1	4548	Silent Mutation	ACA,ACC	T1567T	XP_016871261.1
XM_017015773.1	4548	Silent Mutation	ACA,ACC	T1550T	XP_016871262.1
XM_017015774.1	4548	Silent Mutation	ACA,ACC	T1548T	XP_016871263.1
XM_017015775.1	4548	Silent Mutation	ACA,ACC	T1548T	XP_016871264.1
XM_017015776.1	4548	Silent Mutation	ACA,ACC	T1548T	XP_016871265.1
XM_017015777.1	4548	Silent Mutation	ACA,ACC	T1548T	XP_016871266.1
XM_017015778.1	4548	Silent Mutation	ACA,ACC	T1532T	XP_016871267.1
XM_017015779.1	4548	Silent Mutation	ACA,ACC	T1525T	XP_016871268.1
XM_017015780.1	4548	Silent Mutation	ACA,ACC	T1520T	XP_016871269.1
XM_017015781.1	4548	Silent Mutation	ACA,ACC	T1515T	XP_016871270.1
XM_017015782.1	4548	Silent Mutation	ACA,ACC	T1508T	XP_016871271.1
XM_017015783.1	4548	Silent Mutation	ACA,ACC	T1491T	XP_016871272.1
XM_017015784.1	4548	Silent Mutation	ACA,ACC	T1491T	XP_016871273.1
XM_017015785.1	4548	Silent Mutation	ACA,ACC	T1485T	XP_016871274.1
XM_017015786.1	4548	Silent Mutation	ACA,ACC	T1451T	XP_016871275.1

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