Product Details

SNP ID

rs140600746

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:49435481 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGGTGGTATCACCCCTCCACAC[A/T]TGACAAGAATATCTGGCCGTCCAAG

Phenotype

MIM: 609058

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

MUT PubMed Links

Gene Details

Gene

MUT

Gene Name

methylmalonyl-CoA mutase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000255.3	2364	Missense Mutation	AAG,ATG	K700M	NP_000246.2
XM_005249143.3	2364	Missense Mutation	AAG,ATG	K700M	XP_005249200.1

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