Product Details

SNP ID
rs77916215
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:46612550 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTACTCATAACAGTAAGCCAGTC[A/T]TTCCAATGGAACTCGGGCAGATCTG
Phenotype
MIM: 615088 MIM: 615086
Polymorphism
A/T, Transversion 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 1213 Intron NP_776172.1
XM_011520025.1 1213 Missense Mutation AAA,AAT K231N XP_011518327.1
XM_011520026.2 1213 Missense Mutation AAA,AAT K231N XP_011518328.1
XM_011520027.1 1213 Missense Mutation AAA,AAT K231N XP_011518329.1
XM_011520028.2 1213 Missense Mutation AAA,AAT K231N XP_011518330.1
XM_011520029.2 1213 Missense Mutation AAA,AAT K231N XP_011518331.1
XM_017017602.1 1213 Missense Mutation AAA,AAT K231N XP_016873091.1
XM_017017603.1 1213 Missense Mutation AAA,AAT K231N XP_016873092.1
XM_017017604.1 1213 Intron XP_016873093.1
XM_017017605.1 1213 Intron XP_016873094.1
XM_017017606.1 1213 Intron XP_016873095.1

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