Product Details

SNP ID

rs2228518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:63609108 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGTAGTCAGTGTCGGAGCCCTCGGC[A/G]TTGTCCACGTTTCTCGAGAGCATGT

Phenotype

MIM: 609088 MIM: 605109

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBXL22 PubMed Links

Gene Details

Gene

FBXL22

Gene Name

F-box and leucine rich repeat protein 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203373.2	14786	Intron			NP_976307.2
XM_005254320.3	14786	Intron			XP_005254377.1
XM_006720478.1	14786	Intron			XP_006720541.1
XM_011521468.2	14786	Intron			XP_011519770.1
XM_011521469.1	14786	Intron			XP_011519771.1
XM_011521472.2	14786	Intron			XP_011519774.1
XM_017022086.1	14786	Intron			XP_016877575.1

Gene

HERC1

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003922.3	14786	Silent Mutation	AAC,AAT	N4853N	NP_003913.3
XM_017022699.1	14786	Silent Mutation	AAC,AAT	N4901N	XP_016878188.1
XM_017022700.1	14786	Silent Mutation	AAC,AAT	N4889N	XP_016878189.1
XM_017022701.1	14786	Silent Mutation	AAC,AAT	N4884N	XP_016878190.1
XM_017022702.1	14786	Silent Mutation	AAC,AAT	N4884N	XP_016878191.1
XM_017022703.1	14786	Silent Mutation	AAC,AAT	N4883N	XP_016878192.1
XM_017022704.1	14786	Silent Mutation	AAC,AAT	N4877N	XP_016878193.1
XM_017022705.1	14786	Silent Mutation	AAC,AAT	N4875N	XP_016878194.1
XM_017022706.1	14786	Intron			XP_016878195.1

Gene

USP3-AS1

Gene Name

USP3 antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details