Product Details

SNP ID

rs202221368

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:63999755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTAGGCGATGGGCCCCACTGTGT[A/G]GATGACGTCTACGGGGGGCGACGGG

Phenotype

MIM: 610400 MIM: 608337

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MACROD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs11600062] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MACROD1

Gene Name

MACRO domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014067.3	1301	Missense Mutation	CAC,TAC	H225Y	NP_054786.2
XM_005273939.4	1301	Missense Mutation	CAC,TAC	H225Y	XP_005273996.1
XM_005273940.2	1301	Intron			XP_005273997.1
XM_006718521.3	1301	Intron			XP_006718584.1
XM_006718522.2	1301	Intron			XP_006718585.1
XM_011544970.2	1301	Missense Mutation	CAC,TAC	H215Y	XP_011543272.1

Gene

OTUB1

Gene Name

OTU deubiquitinase, ubiquitin aldehyde binding 1

There are no transcripts associated with this gene.

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