Product Details

SNP ID

rs151006109

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:88653352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGGGGGTCGGCTCCATGGCCAGC[A/G]CAGCCTGAAGCTCAGCTGAGAGAGG

Phenotype

MIM: 608508 MIM: 603236

Polymorphism

A/G, 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	1245	Missense Mutation	GCG,GTG	A357V	NP_002452.1
XM_011523086.2	1245	Missense Mutation	GCG,GTG	A391V	XP_011521388.1
XM_011523087.2	1245	Missense Mutation	GCG,GTG	A370V	XP_011521389.1
XM_011523088.2	1245	Missense Mutation	GCG,GTG	A336V	XP_011521390.1
XM_011523089.2	1245	Missense Mutation	GCG,GTG	A240V	XP_011521391.1

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