Product Details

SNP ID

rs74630711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109574285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACGAGGCGTACTGGGTGTTTTCT[A/G]CAGCCTTGTTTATAATTGTGACACA

Phenotype

MIM: 607568 MIM: 251170

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MMAB PubMed Links

Gene Details

Gene

MMAB

Gene Name

methylmalonic aciduria (cobalamin deficiency) cblB type

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052845.3	255	Intron			NP_443077.1
XM_011538267.2	255	Intron			XP_011536569.1
XM_011538268.2	255	Intron			XP_011536570.1
XM_011538269.2	255	Intron			XP_011536571.1

Gene

MVK

Gene Name

mevalonate kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000431.3	255	Intron			NP_000422.1
NM_001114185.2	255	Intron			NP_001107657.1
NM_001301182.1	255	Intron			NP_001288111.1
XM_011538372.2	255	Intron			XP_011536674.2
XM_017019313.1	255	Intron			XP_016874802.1
XM_017019314.1	255	UTR 5			XP_016874803.1

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