Product Details

SNP ID

rs147742881

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:1255406 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTTCTGGACGAGGTGCGTCTCCC[C/T]GTCTGGAACCACGTCTGGCAAGGGG

Phenotype

MIM: 616593

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM132A PubMed Links

Gene Details

Gene

FAM132A

Gene Name

family with sequence similarity 132 member A

There are no transcripts associated with this gene.

Gene

UBE2J2

Gene Name

ubiquitin conjugating enzyme E2 J2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_058167.2	639	Missense Mutation	AGG,GGG	R193G	NP_477515.2
NM_194315.1	639	Missense Mutation	AGG,GGG	R209G	NP_919296.1
NM_194457.1	639	Missense Mutation	AGG,GGG	R141G	NP_919439.1
NM_194458.1	639	Missense Mutation	AGG,GGG	R141G	NP_919440.1
XM_005244718.3	639	Missense Mutation	AGG,GGG	R193G	XP_005244775.1
XM_005244719.4	639	Missense Mutation	AGG,GGG	R193G	XP_005244776.1
XM_006710333.3	639	Missense Mutation	AGG,GGG	R193G	XP_006710396.1
XM_011540613.2	639	Missense Mutation	AGG,GGG	R158G	XP_011538915.1
XM_011540614.2	639	Missense Mutation	AGG,GGG	R193G	XP_011538916.1
XM_011540616.2	639	Missense Mutation	AGG,GGG	R141G	XP_011538918.1
XM_011540617.2	639	Missense Mutation	AGG,GGG	R141G	XP_011538919.1
XM_017000238.1	639	Missense Mutation	AGG,GGG	R141G	XP_016855727.1
XM_017000239.1	639	Missense Mutation	AGG,GGG	R141G	XP_016855728.1

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