Product Details

SNP ID

rs115989405

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:1255346 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGGAGCCCTGCGAGGTTTGGGA[C/T]GGCCCCCGGCGCATGCCCGTTGAGC

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	699	Missense Mutation	ATC,GTC	I213V	NP_477515.2
NM_194315.1	699	Missense Mutation	ATC,GTC	I229V	NP_919296.1
NM_194457.1	699	Missense Mutation	ATC,GTC	I161V	NP_919439.1
NM_194458.1	699	Missense Mutation	ATC,GTC	I161V	NP_919440.1
XM_005244718.3	699	Missense Mutation	ATC,GTC	I213V	XP_005244775.1
XM_005244719.4	699	Missense Mutation	ATC,GTC	I213V	XP_005244776.1
XM_006710333.3	699	Missense Mutation	ATC,GTC	I213V	XP_006710396.1
XM_011540613.2	699	Missense Mutation	ATC,GTC	I178V	XP_011538915.1
XM_011540614.2	699	Missense Mutation	ATC,GTC	I213V	XP_011538916.1
XM_011540616.2	699	Missense Mutation	ATC,GTC	I161V	XP_011538918.1
XM_011540617.2	699	Missense Mutation	ATC,GTC	I161V	XP_011538919.1
XM_017000238.1	699	Missense Mutation	ATC,GTC	I161V	XP_016855727.1
XM_017000239.1	699	Missense Mutation	ATC,GTC	I161V	XP_016855728.1

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