Product Details

SNP ID
rs41303603
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:126017287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAAGGTGTCGGCTTCTCACTTAA[C/T]ATAGGCGGTGTGGGTGGATCTGGGC
Phenotype
MIM: 602714 MIM: 611640
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ADAM12 PubMed Links

Gene Details

Gene
ADAM12
Gene Name
ADAM metallopeptidase domain 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288973.1 3126 Missense Mutation ATT,GTT I905V NP_001275902.1
NM_001288974.1 3126 Intron NP_001275903.1
NM_001288975.1 3126 Intron NP_001275904.1
NM_003474.5 3126 Missense Mutation ATT,GTT I908V NP_003465.3
NM_021641.4 3126 Intron NP_067673.2
XM_017016705.1 3126 Missense Mutation ATT,GTT I752V XP_016872194.1
XM_017016706.1 3126 Missense Mutation ATT,GTT I519V XP_016872195.1
Gene
FANK1
Gene Name
fibronectin type III and ankyrin repeat domains 1
There are no transcripts associated with this gene.

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