Product Details

SNP ID

rs200300254

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:45508267 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGACTACGAGGTGCACCCCAACC[A/G]ACGCCCCAAGATCCTGGCCCAGACA

Phenotype

MIM: 609831 MIM: 176763

Polymorphism

A/G, Transition 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	390	Missense Mutation	CAA,CGA	Q111R	NP_056321.2
XM_005270724.4	390	Missense Mutation	CAA,CGA	Q46R	XP_005270781.1
XM_011541204.2	390	Missense Mutation	CAA,CGA	Q54R	XP_011539506.1

Gene

PRDX1

Gene Name

peroxiredoxin 1

There are no transcripts associated with this gene.

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