Product Details

SNP ID
rs139271412
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.2:227164799 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCTGGTGCTCCTGGCGGCGGCG[C/T]CCGCAGCCAGCAAGGTGAGTGGGGG
Phenotype
MIM: 120070 MIM: 120131
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COL4A3 PubMed Links

Gene Details

Gene
COL4A3
Gene Name
collagen type IV alpha 3 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000091.4 235 Missense Mutation CCC,TCC P25S NP_000082.2
XM_005246277.3 235 Missense Mutation CCC,TCC P25S XP_005246334.1
XM_005246280.3 235 Missense Mutation CCC,TCC P25S XP_005246337.1
XM_006712245.3 235 Missense Mutation CCC,TCC P25S XP_006712308.1
XM_011510555.1 235 Missense Mutation CCC,TCC P25S XP_011508857.1
XM_011510556.2 235 Intron XP_011508858.1
XM_017003295.1 235 Missense Mutation CCC,TCC P25S XP_016858784.1
Gene
COL4A4
Gene Name
collagen type IV alpha 4 chain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000092.4 235 Intron NP_000083.3
XM_005246281.3 235 Intron XP_005246338.1
XM_005246282.3 235 Intron XP_005246339.1
XM_006712246.3 235 Intron XP_006712309.1
XM_011510557.2 235 Intron XP_011508859.1
XM_011510558.2 235 Intron XP_011508860.1
XM_011510559.2 235 Intron XP_011508861.1
XM_011510560.2 235 Intron XP_011508862.1
XM_011510561.2 235 Intron XP_011508863.1
XM_011510562.2 235 Intron XP_011508864.1
XM_011510565.2 235 Intron XP_011508867.1
XM_011510566.2 235 Intron XP_011508868.1
XM_011510567.2 235 Intron XP_011508869.1
XM_011510568.2 235 Intron XP_011508870.1
XM_011510569.2 235 Intron XP_011508871.1
XM_011510570.2 235 Intron XP_011508872.1
XM_011510572.2 235 Intron XP_011508874.1
XM_017003296.1 235 Intron XP_016858785.1
XM_017003297.1 235 Intron XP_016858786.1
XM_017003298.1 235 Intron XP_016858787.1
XM_017003299.1 235 Intron XP_016858788.1
XM_017003300.1 235 Intron XP_016858789.1

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