Product Details

SNP ID

rs16872523

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:75369851 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATAAAGTAGCTTCACTTATGGTAT[C/T]TGTGCAAGGCTATTCAAAGTATACA

Phenotype

MIM: 604677 MIM: 142910

Polymorphism

C/T, 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

HMGCR

Gene Name

3-hydroxy-3-methylglutaryl-CoA reductase

There are no transcripts associated with this gene.

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