Product Details

SNP ID: rs16832553
Assay Type: Functionally tested
NCBI dbSNP Submissions: 16
Location: Chr.1:45511456 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: CCACTAATTAATAACCTTCTCAATG[G/T]TATGCACCACCATTCTCCTATGGAC
Phenotype: MIM: 609831 MIM: 176763
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: MMACHC PubMed Links

Gene Details

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202431.1		Intron			NP_001189360.1
NM_002574.3		Intron			NP_002565.1
NM_181696.2		Intron			NP_859047.1
NM_181697.2		Intron			NP_859048.1

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