Product Details

SNP ID
rs12625592
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:41360106 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTGGGGCCCGTGCTGCTGTGGG[A/G]GAAACTGAGGCTGGGAGCCTCAGCA
Phenotype
MIM: 608929 MIM: 605520
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EMILIN3 PubMed Links

Gene Details

Gene
EMILIN3
Gene Name
elastin microfibril interfacer 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052846.1 3687 UTR 3 NP_443078.1
Gene
LPIN3
Gene Name
lipin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301860.1 3687 UTR 3 NP_001288789.1
XM_005260516.2 3687 Intron XP_005260573.1
XM_006723863.2 3687 Intron XP_006723926.1
XM_011528996.1 3687 UTR 3 XP_011527298.1
XM_011528997.2 3687 UTR 3 XP_011527299.1
XM_011528998.2 3687 UTR 3 XP_011527300.1
XM_011528999.2 3687 UTR 3 XP_011527301.1
XM_011529000.1 3687 UTR 3 XP_011527302.1
XM_011529001.1 3687 UTR 3 XP_011527303.1
XM_011529002.2 3687 UTR 3 XP_011527304.1
XM_011529003.1 3687 Intron XP_011527305.1
XM_011529004.1 3687 Intron XP_011527306.1
XM_011529005.2 3687 Intron XP_011527307.1
XM_011529006.2 3687 Intron XP_011527308.1
XM_017028020.1 3687 UTR 3 XP_016883509.1

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