Product Details
- SNP ID
-
rs199942885
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.7:44073273 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGCAGCCCAATTTCCTGAGTGGAAG[C/T]GGGGGACACAGGCAGGCTCAGGCGT
- Phenotype
-
MIM: 612931
MIM: 606344
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
MIR6838
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs3218660] are located under a 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.
Gene Details
- Gene
- MIR6838
- Gene Name
- microRNA 6838
There are no transcripts associated with this gene.
- Gene
- PGAM2
- Gene Name
- phosphoglycerate mutase 2
There are no transcripts associated with this gene.
- Gene
- POLM
- Gene Name
- DNA polymerase mu
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001284330.1 |
1513 |
Missense Mutation |
CAC,CGC |
H439R |
NP_001271259.1 |
| NM_001284331.1 |
1513 |
UTR 3 |
|
|
NP_001271260.1 |
| NM_013284.3 |
1513 |
UTR 3 |
|
|
NP_037416.1 |
| XM_005249711.2 |
1513 |
Missense Mutation |
CAC,CGC |
H379R |
XP_005249768.1 |
| XM_006715692.2 |
1513 |
Missense Mutation |
CAC,CGC |
H519R |
XP_006715755.1 |
| XM_006715696.2 |
1513 |
Missense Mutation |
CAC,CGC |
H429R |
XP_006715759.1 |
| XM_006715698.3 |
1513 |
Missense Mutation |
CAC,CGC |
H292R |
XP_006715761.1 |
| XM_011515275.1 |
1513 |
Missense Mutation |
CAC,CGC |
H524R |
XP_011513577.1 |
| XM_011515278.1 |
1513 |
Missense Mutation |
CAC,CGC |
H474R |
XP_011513580.1 |
| XM_011515279.1 |
1513 |
UTR 3 |
|
|
XP_011513581.1 |
| XM_011515282.2 |
1513 |
Missense Mutation |
CAC,CGC |
H291R |
XP_011513584.1 |
| XM_011515285.1 |
1513 |
Missense Mutation |
CAC,CGC |
H255R |
XP_011513587.1 |
| XM_011515286.2 |
1513 |
Intron |
|
|
XP_011513588.1 |
| XM_011515287.2 |
1513 |
Intron |
|
|
XP_011513589.1 |
| XM_017011998.1 |
1513 |
Missense Mutation |
CAC,CGC |
H462R |
XP_016867487.1 |
| XM_017011999.1 |
1513 |
Missense Mutation |
CAC,CGC |
H444R |
XP_016867488.1 |
| XM_017012000.1 |
1513 |
UTR 3 |
|
|
XP_016867489.1 |
| XM_017012001.1 |
1513 |
UTR 3 |
|
|
XP_016867490.1 |
| XM_017012002.1 |
1513 |
Missense Mutation |
CAC,CGC |
H255R |
XP_016867491.1 |
| XM_017012003.1 |
1513 |
Missense Mutation |
CAC,CGC |
H255R |
XP_016867492.1 |
| XM_017012004.1 |
1513 |
Intron |
|
|
XP_016867493.1 |
| XM_017012005.1 |
1513 |
Intron |
|
|
XP_016867494.1 |
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