Product Details

SNP ID

rs189997840

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:63615903 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCATCAGCACTCTGGCCAACAAA[A/C]GAATCAAGAGGAATCATCTAGGAAC

Phenotype

MIM: 609088 MIM: 605109

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FBXL22 PubMed Links

Gene Details

Gene

FBXL22

Gene Name

F-box and leucine rich repeat protein 22

There are no transcripts associated with this gene.

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	14186	Silent Mutation	TCG,TCT	S4653S	NP_003913.3
XM_017022699.1	14186	Silent Mutation	TCG,TCT	S4701S	XP_016878188.1
XM_017022700.1	14186	Silent Mutation	TCG,TCT	S4689S	XP_016878189.1
XM_017022701.1	14186	Silent Mutation	TCG,TCT	S4684S	XP_016878190.1
XM_017022702.1	14186	Silent Mutation	TCG,TCT	S4684S	XP_016878191.1
XM_017022703.1	14186	Silent Mutation	TCG,TCT	S4683S	XP_016878192.1
XM_017022704.1	14186	Silent Mutation	TCG,TCT	S4677S	XP_016878193.1
XM_017022705.1	14186	Silent Mutation	TCG,TCT	S4675S	XP_016878194.1
XM_017022706.1	14186	Intron			XP_016878195.1

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