Product Details

SNP ID
rs35875083
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:75381112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATCTTGCATAGAATGTTGTCCCT[A/G]CTAATTTCCTGGTTTCCCTCTGGTG
Phenotype
MIM: 604677
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COL4A3BP PubMed Links

Gene Details

Gene
COL4A3BP
Gene Name
collagen type IV alpha 3 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130105.1 2228 Silent Mutation AGC,AGT S697S NP_001123577.1
NM_005713.2 2228 Silent Mutation AGC,AGT S569S NP_005704.1
NM_031361.2 2228 Silent Mutation AGC,AGT S543S NP_112729.1
XM_006714513.2 2228 Silent Mutation AGC,AGT S569S XP_006714576.1
XM_011543090.2 2228 Silent Mutation AGC,AGT S569S XP_011541392.1
XM_011543091.2 2228 Silent Mutation AGC,AGT S543S XP_011541393.1
XM_017008919.1 2228 Silent Mutation AGC,AGT S543S XP_016864408.1

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