Product Details
- SNP ID
-
rs10932470
- Assay Type
- Validated
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:149576176 on Build GRCh38
- Set Membership
-
HapMap
Validated
- Context Sequence [VIC/FAM]
- TTAACTCATAAAATTATAACTCTAA[A/T]AATCACCCAGGAGTAAAAATGACTT
- Phenotype
-
MIM: 611935
- Polymorphism
- A/T, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
MMADHC
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs111697857] 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
- MMADHC
- Gene Name
- methylmalonic aciduria and homocystinuria, cblD type
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_015702.2 |
|
Intron |
|
|
NP_056517.1 |
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