Product Details

SNP ID
rs104895335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109574882 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAAGTCATCCTTCATGGAGAACA[A/T]GCCGTGGTACATGGCAAGGTACAAA
Phenotype
MIM: 607568 MIM: 251170
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MMAB PubMed Links

Gene Details

Gene
MMAB
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblB type
There are no transcripts associated with this gene.

Gene
MVK
Gene Name
mevalonate kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000431.3 206 Silent Mutation CAA,CAT Q20H NP_000422.1
NM_001114185.2 206 Silent Mutation CAA,CAT Q20H NP_001107657.1
NM_001301182.1 206 Silent Mutation CAA,CAT Q20H NP_001288111.1
XM_011538372.2 206 Missense Mutation CAA,CAT Q120H XP_011536674.2
XM_017019313.1 206 Missense Mutation CAA,CAT Q20H XP_016874802.1
XM_017019314.1 206 Missense Mutation CAA,CAT Q20H XP_016874803.1

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