Product Details

SNP ID

rs5744545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:75512592 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATTAGGCAATAGGAGGCTATTTTT[A/G]TTTTAAGACTAGGGTTGAATTAGCA

Phenotype

MIM: 604677 MIM: 605650

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		Intron			NP_001123577.1
NM_005713.2		Intron			NP_005704.1
NM_031361.2		Intron			NP_112729.1
XM_006714513.2		Intron			XP_006714576.1
XM_011543090.2		Intron			XP_011541392.1
XM_011543091.2		Intron			XP_011541393.1
XM_017008919.1		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		Intron			NP_057302.1
XM_005248534.4		Intron			XP_005248591.1
XM_006714652.3		Intron			XP_006714715.1
XM_011543463.2		Intron			XP_011541765.1
XM_011543464.2		Intron			XP_011541766.1
XM_011543467.2		Intron			XP_011541769.1
XM_017009558.1		Intron			XP_016865047.1
XM_017009559.1		Intron			XP_016865048.1
XM_017009560.1		Intron			XP_016865049.1
XM_017009561.1		Intron			XP_016865050.1
XM_017009562.1		Intron			XP_016865051.1
XM_017009563.1		Intron			XP_016865052.1
XM_017009564.1		Intron			XP_016865053.1

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