Product Details

SNP ID

rs11544936

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:45511358 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGCTTGGAGAAATATTCTTTGC[C/T]CTTTTGGACATCAGGCTTGATGGTA

Phenotype

MIM: 609831 MIM: 176763

Polymorphism

C/T, Transition 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	912	Intron			NP_056321.2
XM_005270724.4	912	Intron			XP_005270781.1
XM_011541204.2	912	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	912	Missense Mutation	AGC,GGC	S191G	NP_001189360.1
NM_002574.3	912	Missense Mutation	AGC,GGC	S191G	NP_002565.1
NM_181696.2	912	Missense Mutation	AGC,GGC	S191G	NP_859047.1
NM_181697.2	912	Intron			NP_859048.1

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