Product Details

SNP ID

rs28365083

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.7:99652613 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

CTTTGGGTCATGGTGAAGAGCATAA[G/T]TTGGAATCACCACCATTGACCCTTT

Phenotype

MIM: 605325

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

CYP3A5*2,g.27289C>A

Literature Links

CYP3A5 PubMed Links

Gene Details

Gene

CYP3A5

Gene Name

cytochrome P450 family 3 subfamily A member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000777.4	1440	Missense Mutation	AAT,ACT	N398T	NP_000768.1
NM_001190484.2	1440	Intron			NP_001177413.1
NM_001291829.1	1440	Missense Mutation	AAT,ACT	N285T	NP_001278758.1
NM_001291830.1	1440	Missense Mutation	AAT,ACT	N388T	NP_001278759.1
XM_006715859.2	1440	Intron			XP_006715922.1
XM_011515843.1	1440	Missense Mutation	AAT,ACT	N285T	XP_011514145.1
XM_017011781.1	1440	Missense Mutation	AAT,ACT	N285T	XP_016867270.1
XM_017011782.1	1440	Missense Mutation	AAT,ACT	N218T	XP_016867271.1

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	1440	Intron			NP_660090.2
XM_005250194.2	1440	Intron			XP_005250251.1
XM_011515905.2	1440	Intron			XP_011514207.1
XM_011515906.2	1440	Intron			XP_011514208.1
XM_011515907.2	1440	Intron			XP_011514209.1
XM_011515908.2	1440	Intron			XP_011514210.1
XM_011515909.2	1440	Intron			XP_011514211.1
XM_011515910.2	1440	Intron			XP_011514212.1
XM_017011824.1	1440	Intron			XP_016867313.1
XM_017011825.1	1440	Intron			XP_016867314.1
XM_017011826.1	1440	Intron			XP_016867315.1
XM_017011827.1	1440	Intron			XP_016867316.1

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