Product Details

SNP ID

rs2275276

Assay Type

Functionally tested

NCBI dbSNP Submissions

66

Location

Chr.1:45508256 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

TAGAAATCATTGCTGACTACGAGGT[A/G]CACCCCAACCGACGCCCCAAGATCC

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	379	Silent Mutation	GTA,GTG	V107V	NP_056321.2
XM_005270724.4	379	Silent Mutation	GTA,GTG	V42V	XP_005270781.1
XM_011541204.2	379	Silent Mutation	GTA,GTG	V50V	XP_011539506.1

Gene

PRDX1

Gene Name

peroxiredoxin 1

There are no transcripts associated with this gene.

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