Product Details

SNP ID
rs104895313
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:109576023 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGCACTGGCTGTATCCTTGAACT[C/T]GAGAACATTCCTCCGGCTTCAACCC
Phenotype
MIM: 607568 MIM: 251170
Polymorphism
C/T, Transition 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_000431.3 250 Missense Mutation TCG,TTG S35L NP_000422.1
NM_001114185.2 250 Missense Mutation TCG,TTG S35L NP_001107657.1
NM_001301182.1 250 Missense Mutation TCG,TTG S35L NP_001288111.1
XM_011538372.2 250 Missense Mutation TCG,TTG S135L XP_011536674.2
XM_017019313.1 250 Missense Mutation TCG,TTG S35L XP_016874802.1
XM_017019314.1 250 Missense Mutation TCG,TTG S35L XP_016874803.1

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