Product Details
- SNP ID
-
hCV12026503
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:49435574 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCAGCAGCGAGGGTGCTTATGCCC[A/T]CAGCATGCACATCCGCATCCACAGC
- Phenotype
-
MIM: 609058
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
MUT
PubMed Links
Gene Details
- Gene
- MUT
- Gene Name
- methylmalonyl-CoA mutase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_000255.3 |
2271 |
Missense Mutation |
GAG,GTG |
E669V |
NP_000246.2 |
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