Assay Details
Target Gene Details
Entrez Gene ID: | 4524 |
Gene Name: | methylenetetrahydrofolate reductase (NAD(P)H) |
Gene Aliases: |
- |
Location: |
Chr.1:11785730-11806103 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTHFR | NM_005957.4 | NP_005948.3 | ||
XM_005263458.3 | XP_005263515.1 | |||
XM_005263460.4 | XP_005263517.1 | |||
XM_005263462.4 | XP_005263519.1 | |||
XM_005263463.3 | XP_005263520.1 | |||
XM_011541495.2 | XP_011539797.1 | |||
XM_011541496.2 | XP_011539798.1 | |||
XM_017001328.1 | XP_016856817.1 | |||
AB209113.1 | BAD92350.1 | |||
AJ237672.1 | CAB41971.1 | |||
AK312907.1 | ||||
BC053509.1 | AAH53509.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518652 | Chr.1:11797654 - 11802721 on Build GRCh38 | Loss | MTHFR |
More Information
Additional Information:
For this assay, SNP(s) [rs77078602] are located under a primer or probe 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.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |