Product Details

SNP ID

rs6718714

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:227174018 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGAATAGATTTTGTCTGGTTATTT[A/C]CCATAAGAAATAAATACTTGTCTAA

Phenotype

MIM: 120070 MIM: 120131

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

COL4A3 PubMed Links

Additional Information

For this assay, SNP(s) [rs78373165] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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		Intron			NP_000082.2
XM_005246277.3		Intron			XP_005246334.1
XM_005246280.3		Intron			XP_005246337.1
XM_006712245.3		Intron			XP_006712308.1
XM_011510555.1		Intron			XP_011508857.1
XM_011510556.2		Intron			XP_011508858.1
XM_017003295.1		Intron			XP_016858784.1

Gene

COL4A4

Gene Name

collagen type IV alpha 4 chain

There are no transcripts associated with this gene.

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