Product Details

SNP ID

rs141012191

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49470210 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAGCAAATGCTTCCAAGAAAAAC[A/G]CTCAACAGTTAAAAAGAAATCCAAA

Phenotype

MIM: 611506 MIM: 609058

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CENPQ PubMed Links

Gene Details

Gene

CENPQ

Gene Name

centromere protein Q

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018132.3	184	Missense Mutation	ACT,GCT	T12A	NP_060602.2
XM_005249205.1	184	Missense Mutation	ACT,GCT	T12A	XP_005249262.1
XM_011514723.2	184	Intron			XP_011513025.2

Gene

MUT

Gene Name

methylmalonyl-CoA mutase

There are no transcripts associated with this gene.

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