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SNP ID

rs143272248

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:186194587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGTCGGGCCAGTGCCCATGGTGG[C/T]CCTTTATAATGCAGAAAATGTGGAG

Phenotype

MIM: 608614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYP4V2 PubMed Links

Gene Details

Gene

CYP4V2

Gene Name

cytochrome P450 family 4 subfamily V member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207352.3	391	Missense Mutation	GCC,GTC	A101V	NP_997235.3
XM_005262935.3	391	Missense Mutation	GCC,GTC	A101V	XP_005262992.1
XM_017008037.1	391	UTR 5			XP_016863526.1

Gene

FLJ38576

Gene Name

uncharacterized LOC651430

There are no transcripts associated with this gene.

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