Product Details

SNP ID

rs58419206

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:25342030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCCCTTTACAAATCCACCAGTC[A/G]GCAAGAGAAAACAAAAAAGAAACAC

Phenotype

MIM: 601623

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UBE3A PubMed Links

Gene Details

Gene

UBE3A

Gene Name

ubiquitin protein ligase E3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000462.3		Intron			NP_000453.2
NM_130838.1		Intron			NP_570853.1
NM_130839.2		Intron			NP_570854.1
XM_005268267.4		Intron			XP_005268324.1
XM_005268268.4		Intron			XP_005268325.1
XM_005268269.4		Intron			XP_005268326.1
XM_005268270.4		Intron			XP_005268327.1
XM_005268271.4		Intron			XP_005268328.1
XM_006720675.3		Intron			XP_006720738.1
XM_006720676.3		Intron			XP_006720739.1
XM_011521994.2		Intron			XP_011520296.1
XM_011521995.2		Intron			XP_011520297.1
XM_017022544.1		Intron			XP_016878033.1
XM_017022545.1		Intron			XP_016878034.1
XM_017022546.1		Intron			XP_016878035.1
XM_017022547.1		Intron			XP_016878036.1
XM_017022548.1		Intron			XP_016878037.1
XM_017022549.1		Intron			XP_016878038.1
XM_017022550.1		Intron			XP_016878039.1
XM_017022551.1		Intron			XP_016878040.1
XM_017022552.1		Intron			XP_016878041.1
XM_017022553.1		Intron			XP_016878042.1
XM_017022554.1		Intron			XP_016878043.1
XM_017022555.1		Intron			XP_016878044.1
XM_017022556.1		Intron			XP_016878045.1
XM_017022557.1		Intron			XP_016878046.1
XM_017022558.1		Intron			XP_016878047.1
XM_017022559.1		Intron			XP_016878048.1

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