Product Details

SNP ID
rs145602631
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:14002362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACTATATTCCCCTGAACAGCATT[C/T]TATCATGGAAGGAGGAGATGAAGGG
Phenotype
MIM: 611567 MIM: 614289
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MACROD2 PubMed Links

Gene Details

Gene
MACROD2
Gene Name
MACRO domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033087.1 409 Intron NP_001028259.1
NM_080676.5 409 Silent Mutation CTA,TTA L41L NP_542407.2
XM_017027675.1 409 Intron XP_016883164.1
XM_017027676.1 409 Intron XP_016883165.1
XM_017027677.1 409 Missense Mutation CTA,TTA L41L XP_016883166.1
Gene
SEL1L2
Gene Name
SEL1L2 ERAD E3 ligase adaptor subunit
There are no transcripts associated with this gene.

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