Product Details

SNP ID

rs12721530

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:2731044 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAGCTCGCTGGCTGGCTGGTCTGA[A/C]AGCATTCCTGAGCCAGGTATTCCAG

Phenotype

MIM: 615168 MIM: 604394

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

AMZ1 PubMed Links

Additional Information

For this assay, SNP(s) [rs114013948] 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

AMZ1

Gene Name

archaelysin family metallopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284355.2	1435	Intron			NP_001271284.1
NM_001321766.1	1435	Intron			NP_001308695.1
NM_133463.3	1435	Intron			NP_597720.1
XM_011515150.2	1435	Intron			XP_011513452.1
XM_011515151.2	1435	Intron			XP_011513453.1
XM_017011774.1	1435	Intron			XP_016867263.1
XM_017011775.1	1435	Intron			XP_016867264.1
XM_017011776.1	1435	Intron			XP_016867265.1

Gene

GNA12

Gene Name

G protein subunit alpha 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282440.1	1435	UTR 3			NP_001269369.1
NM_001282441.1	1435	UTR 3			NP_001269370.1
NM_001293092.1	1435	UTR 3			NP_001280021.1
NM_007353.2	1435	UTR 3			NP_031379.2
XM_011515288.2	1435	UTR 3			XP_011513590.1
XM_017012008.1	1435	UTR 3			XP_016867497.1

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