Product Details

SNP ID
rs140590091
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:23689881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGGATTTGGGCCACCGCCACCTG[A/C]GGGGAGAGGGGACCCGGCGAGGGGA
Phenotype
MIM: 600805
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LAMA3 PubMed Links

Gene Details

Gene
LAMA3
Gene Name
laminin subunit alpha 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000227.4 439 Intron NP_000218.3
NM_001127717.2 439 Nonsense Mutation TGA,TGC *66C NP_001121189.2
NM_001127718.2 439 Intron NP_001121190.2
NM_001302996.1 439 Nonsense Mutation TGA,TGC *66C NP_001289925.1
NM_198129.2 439 Nonsense Mutation TGA,TGC *66C NP_937762.2
XM_011525978.2 439 Nonsense Mutation TGA,TGC *66C XP_011524280.1
XM_011525979.2 439 Nonsense Mutation TGA,TGC *66C XP_011524281.1
XM_011525980.2 439 Nonsense Mutation TGA,TGC *66C XP_011524282.1
XM_011525981.2 439 Nonsense Mutation TGA,TGC *66C XP_011524283.1
XM_011525982.2 439 Nonsense Mutation TGA,TGC *66C XP_011524284.1
XM_017025743.1 439 Intron XP_016881232.1
XM_017025744.1 439 Intron XP_016881233.1

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