Product Details

SNP ID

rs2257401

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.7:99709062 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

TTCAGGGAGGAACTTCTCAGGCTCT[C/G]TCCAGTACTTTGGGTCATGATGAAG

Phenotype

MIM: 605340

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

CYP3A7*2,c.1226C>G CYP3A7*2,g.26041C>G

Literature Links

CYP3A7 PubMed Links

Gene Details

Gene

CYP3A7

Gene Name

cytochrome P450 family 3 subfamily A member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000765.4	1333	Missense Mutation	ACA,AGA	T409R	NP_000756.3

Gene

CYP3A7-CYP3A51P

Gene Name

CYP3A7-CYP3A51P readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256497.2	1333	Missense Mutation	ACA,AGA	T409R	NP_001243426.2

Gene

ZSCAN25

Gene Name

zinc finger and SCAN domain containing 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145115.2	1333	Intron			NP_660090.2
XM_005250194.2	1333	Intron			XP_005250251.1
XM_011515905.2	1333	Intron			XP_011514207.1
XM_011515906.2	1333	Intron			XP_011514208.1
XM_011515907.2	1333	Intron			XP_011514209.1
XM_011515908.2	1333	Intron			XP_011514210.1
XM_011515909.2	1333	Intron			XP_011514211.1
XM_011515910.2	1333	Intron			XP_011514212.1
XM_017011824.1	1333	Intron			XP_016867313.1
XM_017011825.1	1333	Intron			XP_016867314.1
XM_017011826.1	1333	Intron			XP_016867315.1
XM_017011827.1	1333	Intron			XP_016867316.1

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