Product Details

SNP ID

rs818755

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:14000341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACCTTTTTTTTTTGTCTCCTAAT[A/G]TGGCTGAAGTTCTAGTTATAGGAGT

Phenotype

MIM: 611567 MIM: 614289

Polymorphism

A/G, 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		Intron			NP_001028259.1
NM_080676.5		Intron			NP_542407.2
XM_017027675.1		Intron			XP_016883164.1
XM_017027676.1		Intron			XP_016883165.1
XM_017027677.1		Intron			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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