Product Details

SNP ID
rs201364396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:8823805 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAACATCAGCTTTGAGGAGAAGA[A/G]AAAGGTTCTAATTCAGAGGCAGGGG
Phenotype
MIM: 610627
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
A2ML1 PubMed Links

Gene Details

Gene
A2ML1
Gene Name
alpha-2-macroglobulin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282424.2 430 Intron NP_001269353.1
NM_144670.5 430 Missense Mutation AAA,AGA K111R NP_653271.2
XM_011520566.2 430 Missense Mutation AAA,AGA K111R XP_011518868.1
XM_011520567.2 430 Missense Mutation AAA,AGA K111R XP_011518869.1
XM_017018868.1 430 Missense Mutation AAA,AGA K111R XP_016874357.1
XM_017018869.1 430 Missense Mutation AAA,AGA K111R XP_016874358.1
XM_017018870.1 430 Missense Mutation AAA,AGA K111R XP_016874359.1

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