Product Details

SNP ID
rs139814460
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:45506035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCTGGATATAGTAAAATTTTAAT[A/C]TATTATAACCCCTTGATCTTCAGTG
Phenotype
MIM: 609831 MIM: 176763
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
CCDC163P PubMed Links

Gene Details

Gene
CCDC163P
Gene Name
coiled-coil domain containing 163, pseudogene
There are no transcripts associated with this gene.

Gene
MMACHC
Gene Name
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015506.2 Intron NP_056321.2
XM_005270724.4 Intron XP_005270781.1
XM_011541204.2 Intron XP_011539506.1
Gene
PRDX1
Gene Name
peroxiredoxin 1
There are no transcripts associated with this gene.

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