Product Details

SNP ID
rs112306737
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:46615591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCAGAAGCCAGCTATCTTTGTGC[A/G]TACCCGCTTCAAACTGACTACTGAG
Phenotype
MIM: 615088 MIM: 615086
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ATG13 PubMed Links

Gene Details

Gene
ATG13
Gene Name
autophagy related 13
There are no transcripts associated with this gene.

Gene
HARBI1
Gene Name
harbinger transposase derived 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173811.3 1167 Missense Mutation ACG,ATG T216M NP_776172.1
XM_011520025.1 1167 Missense Mutation ACG,ATG T216M XP_011518327.1
XM_011520026.2 1167 Missense Mutation ACG,ATG T216M XP_011518328.1
XM_011520027.1 1167 Missense Mutation ACG,ATG T216M XP_011518329.1
XM_011520028.2 1167 Missense Mutation ACG,ATG T216M XP_011518330.1
XM_011520029.2 1167 Missense Mutation ACG,ATG T216M XP_011518331.1
XM_017017602.1 1167 Missense Mutation ACG,ATG T216M XP_016873091.1
XM_017017603.1 1167 Missense Mutation ACG,ATG T216M XP_016873092.1
XM_017017604.1 1167 Missense Mutation ACG,ATG T216M XP_016873093.1
XM_017017605.1 1167 Missense Mutation ACG,ATG T216M XP_016873094.1
XM_017017606.1 1167 Missense Mutation ACG,ATG T216M XP_016873095.1

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