Product Details

SNP ID
rs80312370
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:75512191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTTTTGTGAGCTACTAGTGCCAA[C/G]GGTTTTCTTTCCACCAGACCACCGC
Phenotype
MIM: 604677 MIM: 605650
Polymorphism
C/G, Transversion 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_001130105.1 127 Intron NP_001123577.1
NM_005713.2 127 Intron NP_005704.1
NM_031361.2 127 Intron NP_112729.1
XM_006714513.2 127 Intron XP_006714576.1
XM_011543090.2 127 Intron XP_011541392.1
XM_011543091.2 127 Intron XP_011541393.1
XM_017008919.1 127 Intron XP_016864408.1
Gene
POLK
Gene Name
polymerase (DNA) kappa
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016218.2 127 Intron NP_057302.1
XM_005248534.4 127 Intron XP_005248591.1
XM_006714652.3 127 Intron XP_006714715.1
XM_011543463.2 127 Intron XP_011541765.1
XM_011543464.2 127 UTR 5 XP_011541766.1
XM_011543467.2 127 UTR 5 XP_011541769.1
XM_017009558.1 127 Intron XP_016865047.1
XM_017009559.1 127 Intron XP_016865048.1
XM_017009560.1 127 Intron XP_016865049.1
XM_017009561.1 127 Intron XP_016865050.1
XM_017009562.1 127 Intron XP_016865051.1
XM_017009563.1 127 Intron XP_016865052.1
XM_017009564.1 127 Intron XP_016865053.1

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