Product Details

SNP ID
rs142592344
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:39746597 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAAGAAAAATGGCCATCTCATTGG[A/T]TTGGAATGGTAAATGTTCTCAATGT
Phenotype
MIM: 601533
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ADAM2 PubMed Links

Gene Details

Gene
ADAM2
Gene Name
ADAM metallopeptidase domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278113.1 2001 Missense Mutation AAA,AAT K664N NP_001265042.1
NM_001278114.1 2001 Missense Mutation AAA,AAT K620N NP_001265043.1
NM_001464.4 2001 Missense Mutation AAA,AAT K683N NP_001455.3
XM_005273468.1 2001 Missense Mutation AAA,AAT K653N XP_005273525.1
XM_011544479.1 2001 Missense Mutation AAA,AAT K557N XP_011542781.1
XM_011544480.1 2001 Missense Mutation AAA,AAT K527N XP_011542782.1

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