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 Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MTHFR | NM_005957.4 | 3 | 614 | NP_005948.3 |
XM_005263458.3 | 3 | 1451 | XP_005263515.1 | |
XM_005263460.4 | 3 | 1069 | XP_005263517.1 | |
XM_005263462.4 | 3 | 502 | XP_005263519.1 | |
XM_005263463.3 | 3 | 631 | XP_005263520.1 | |
XM_011541495.2 | 3 | 1448 | XP_011539797.1 | |
XM_011541496.2 | 3 | 1451 | XP_011539798.1 | |
XM_017001328.1 | 3 | 1451 | XP_016856817.1 | |
AB209113.1 | 2 | 652 | BAD92350.1 | |
AJ237672.1 | 2 | 514 | CAB41971.1 | |
AK312907.1 | 3 | 475 | ||
BC053509.1 | 3 | 436 | 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
Set Membership: |
Intragenic Exonic DGV Variation |