Product Details

SNP ID
rs201012509
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:110152355 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTTGAACATCTCGCTCCTCTCT[A/G]TGGTGGCGAGCCAAAAGCTGTAAGC
Phenotype
MIM: 120130
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COL4A1 PubMed Links

Gene Details

Gene
COL4A1
Gene Name
collagen type IV alpha 1 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303110.1 12969 Intron NP_001290039.1
NM_001845.5 12969 Missense Mutation ACA,ATA T1636I NP_001836.3
XM_011521048.2 12969 Missense Mutation ACA,ATA T1572I XP_011519350.1

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