Product Details

SNP ID

rs34888691

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:88652597 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGTCATCCAGGATTTGAGGCCC[C/T]GGCCCCACCTGGGGATAGAAATCCA

Phenotype

MIM: 608508 MIM: 603236

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYBA PubMed Links

Gene Details

Gene

CYBA

Gene Name

cytochrome b-245 alpha chain

There are no transcripts associated with this gene.

Gene

MVD

Gene Name

mevalonate diphosphate decarboxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002461.2	1306	Silent Mutation	CCA,CCG	P377P	NP_002452.1
XM_011523086.2	1306	Silent Mutation	CCA,CCG	P411P	XP_011521388.1
XM_011523087.2	1306	Silent Mutation	CCA,CCG	P390P	XP_011521389.1
XM_011523088.2	1306	Silent Mutation	CCA,CCG	P356P	XP_011521390.1
XM_011523089.2	1306	Silent Mutation	CCA,CCG	P260P	XP_011521391.1

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