Product Details

SNP ID

rs200304933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:52548109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTGGCGAATGTTGAGGGTGTCC[C/T]GGAGCATCAAATCTCGAAGGCGCCA

Phenotype

MIM: 606083

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PBRM1 PubMed Links

Gene Details

Gene

PBRM1

Gene Name

polybromo 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018313.4	5228	Missense Mutation	CAG,CGG	Q1568R	NP_060783.3
XM_005265279.4	5228	Missense Mutation	CAG,CGG	Q1690R	XP_005265336.1
XM_005265280.3	5228	Missense Mutation	CAG,CGG	Q1690R	XP_005265337.1
XM_005265282.3	5228	Missense Mutation	CAG,CGG	Q1690R	XP_005265339.1
XM_005265283.3	5228	Missense Mutation	CAG,CGG	Q1690R	XP_005265340.1
XM_011533900.2	5228	Missense Mutation	CAG,CGG	Q1711R	XP_011532202.1
XM_011533902.2	5228	Missense Mutation	CAG,CGG	Q1711R	XP_011532204.1
XM_011533903.2	5228	Missense Mutation	CAG,CGG	Q1711R	XP_011532205.1
XM_017006725.1	5228	Missense Mutation	CAG,CGG	Q1720R	XP_016862214.1
XM_017006726.1	5228	Missense Mutation	CAG,CGG	Q1720R	XP_016862215.1
XM_017006727.1	5228	Missense Mutation	CAG,CGG	Q1720R	XP_016862216.1
XM_017006728.1	5228	Missense Mutation	CAG,CGG	Q1720R	XP_016862217.1
XM_017006729.1	5228	Missense Mutation	CAG,CGG	Q1719R	XP_016862218.1
XM_017006730.1	5228	Missense Mutation	CAG,CGG	Q1717R	XP_016862219.1
XM_017006731.1	5228	Missense Mutation	CAG,CGG	Q1717R	XP_016862220.1
XM_017006732.1	5228	Missense Mutation	CAG,CGG	Q1710R	XP_016862221.1
XM_017006733.1	5228	Missense Mutation	CAG,CGG	Q1707R	XP_016862222.1
XM_017006734.1	5228	Missense Mutation	CAG,CGG	Q1707R	XP_016862223.1
XM_017006735.1	5228	Missense Mutation	CAG,CGG	Q1705R	XP_016862224.1
XM_017006736.1	5228	Missense Mutation	CAG,CGG	Q1704R	XP_016862225.1
XM_017006737.1	5228	Missense Mutation	CAG,CGG	Q1699R	XP_016862226.1
XM_017006738.1	5228	Missense Mutation	CAG,CGG	Q1699R	XP_016862227.1
XM_017006739.1	5228	Missense Mutation	CAG,CGG	Q1699R	XP_016862228.1
XM_017006740.1	5228	Missense Mutation	CAG,CGG	Q1699R	XP_016862229.1
XM_017006741.1	5228	Missense Mutation	CAG,CGG	Q1696R	XP_016862230.1
XM_017006742.1	5228	Missense Mutation	CAG,CGG	Q1696R	XP_016862231.1
XM_017006743.1	5228	Missense Mutation	CAG,CGG	Q1695R	XP_016862232.1
XM_017006744.1	5228	Missense Mutation	CAG,CGG	Q1693R	XP_016862233.1
XM_017006745.1	5228	Missense Mutation	CAG,CGG	Q1690R	XP_016862234.1
XM_017006746.1	5228	Missense Mutation	CAG,CGG	Q1690R	XP_016862235.1
XM_017006747.1	5228	Missense Mutation	CAG,CGG	Q1688R	XP_016862236.1
XM_017006748.1	5228	Missense Mutation	CAG,CGG	Q1675R	XP_016862237.1
XM_017006749.1	5228	Missense Mutation	CAG,CGG	Q1675R	XP_016862238.1
XM_017006750.1	5228	Missense Mutation	CAG,CGG	Q1675R	XP_016862239.1
XM_017006751.1	5228	Missense Mutation	CAG,CGG	Q1671R	XP_016862240.1
XM_017006752.1	5228	Missense Mutation	CAG,CGG	Q1668R	XP_016862241.1
XM_017006753.1	5228	Missense Mutation	CAG,CGG	Q1665R	XP_016862242.1
XM_017006754.1	5228	Missense Mutation	CAG,CGG	Q1659R	XP_016862243.1
XM_017006755.1	5228	Missense Mutation	CAG,CGG	Q1641R	XP_016862244.1
XM_017006756.1	5228	Missense Mutation	CAG,CGG	Q1640R	XP_016862245.1
XM_017006757.1	5228	Missense Mutation	CAG,CGG	Q1620R	XP_016862246.1
XM_017006758.1	5228	Missense Mutation	CAG,CGG	Q1620R	XP_016862247.1
XM_017006759.1	5228	Missense Mutation	CAG,CGG	Q1616R	XP_016862248.1
XM_017006760.1	5228	Missense Mutation	CAG,CGG	Q1604R	XP_016862249.1
XM_017006761.1	5228	Missense Mutation	CAG,CGG	Q1604R	XP_016862250.1
XM_017006762.1	5228	Missense Mutation	CAG,CGG	Q1603R	XP_016862251.1
XM_017006763.1	5228	Missense Mutation	CAG,CGG	Q1601R	XP_016862252.1
XM_017006764.1	5228	Missense Mutation	CAG,CGG	Q1589R	XP_016862253.1
XM_017006765.1	5228	Missense Mutation	CAG,CGG	Q1568R	XP_016862254.1
XM_017006766.1	5228	Missense Mutation	CAG,CGG	Q1564R	XP_016862255.1

Gene

SMIM4

Gene Name

small integral membrane protein 4

There are no transcripts associated with this gene.

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