Product Details

SNP ID: rs111670008
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.4:88378949 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTACTTCTGTTGGGGCGCCGACTCC[A/G]GGGAGCTGCAGCGCCGGAGGACGGC
Phenotype: MIM: 609249
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: HERC6 PubMed Links

Gene Details

Gene: HERC6
Gene Name: HECT and RLD domain containing E3 ubiquitin protein ligase family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165136.1	372	Missense Mutation	AGG,GGG	R10G	NP_001158608.1
NM_017912.3	372	Missense Mutation	AGG,GGG	R10G	NP_060382.3
XM_005263083.3	372	Missense Mutation	AGG,GGG	R10G	XP_005263140.1
XM_011532053.2	372	Missense Mutation	AGG,GGG	R10G	XP_011530355.1
XM_017008333.1	372	Intron			XP_016863822.1