rs56411402

Overview
Prescribing Info
Drug Label Annotations
Summary Annotations
Variant Annotations
Named Alleles
Literature
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Clinical Annotations
0
Variant Annotations
0
Rare Variant(gnomAD Genomes)Learn more about rare variants(opens in new window)

Description

rs56411402 is part of the CYP3A5*3.009 sub allele defined by PharmVar. CYP3A5*4 (rs56411402) has been retired in February 2022 after the core variant has been found to be in complete linkage equilibrium with the CYP3A5*3-defining intronic variant c.219-237. See Change Log document and the PharmVar CYP3A5 GeneFocus [Article:35202484] for additional details.

Associated Genes

Type

Snp

Classification

Not Available

Locations

AssemblySequencePositionAllelesSource
GRCh38NC_000007.14(opens in new window)99665237
  • T > C
Pharmacogene Variation Consortium
GRCh38NC_000007.14(opens in new window)99665237
  • T > C
dbSnp
GRCh37NC_000007.13(opens in new window)99262860
  • T > C
dbSnp
NG_007938.1(opens in new window)19762
  • A > G
dbSnp
NG_007938.2(opens in new window)19762
  • A > G
dbSnp
NP_000768.1(opens in new window)200
  • Q > R
dbSnp
GRCh38NC_000007.14(opens in new window)99665237
  • T > C
ClinPGx Haplotype

Variant Frequencies

This variant is considered rare based on global allele frequencies based on data from gnomAD Genomes. more info

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Identifiers

ID

PA166157497

Aliases

  • CYP3A5*4 (retired by PharmVar)
  • NC_000007.13:g.99262860T>C
  • NC_000007.14:g.99665237T>C
  • NG_007938.1:g.19762A>G
  • NM_000777.4:c.599A>G
  • NM_001291829.1:c.260A>G
  • NM_001291830.1:c.569A>G
  • NP_000768.1:p.Gln200Arg
  • NP_001278758.1:p.Gln87Arg
  • NP_001278759.1:p.Gln190Arg
  • NR_033807.2:n.1248A>G
  • NR_033808.1:n.1201A>G
  • NR_033809.1:n.961A>G
  • NR_033810.1:n.1201A>G
  • NR_033811.1:n.950A>G
  • NR_033812.1:n.842A>G
  • XM_005250169.1:c.569A>G
  • XM_005250170.1:c.260A>G
  • XM_005250171.1:c.260A>G
  • XM_005250172.1:c.260A>G
  • XM_005250173.1:c.59A>G
  • XM_005250198.1:c.806-11967T>C
  • XM_006715859.2:c.599A>G
  • XM_011515843.1:c.260A>G
  • XM_011515844.1:c.260A>G
  • XM_011515845.1:c.59A>G
  • XM_011515846.1:c.59A>G
  • XM_011515847.1:c.59A>G
  • XM_011515909.1:c.806-3858T>C
  • XP_005250226.1:p.Gln190Arg
  • XP_005250227.1:p.Gln87Arg
  • XP_005250228.1:p.Gln87Arg
  • XP_005250229.1:p.Gln87Arg
  • XP_005250230.1:p.Gln20Arg
  • XP_006715922.1:p.Gln200Arg
  • XP_011514145.1:p.Gln87Arg
  • XP_011514146.1:p.Gln87Arg
  • XP_011514147.1:p.Gln20Arg
  • XP_011514148.1:p.Gln20Arg
  • XP_011514149.1:p.Gln20Arg
  • XR_927402.1:n.1466+41057T>C

History

No history available.