Skip to content
Use your HSA or FSA funds

Gene

AMPD1

adenosine monophosphate deaminase 1

Summary

Cytogenetic location
1p13.2
Coordinates
Chromosome 1: 114,673,098–114,695,546 (GRCh38)
Exons
16 exons across 22.4 kb
Protein
747 amino acids
Also known as
MAD, MADA
MANE Select transcript
ENST00000520113.7NM_000036.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Trait report that reads AMPD1

How AMPD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where AMPD1 sits. AMPD1 and 9 genes near it on chromosome 1, from 114,184,322 to 115,184,321.Chromosome 11p13.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44114.2 Mb114.4 Mb114.6 Mb114.8 Mb115 MbTRIM33: 114,392,781–114,511,244, reverse strandTRIM33BCAS2: 114,547,043–114,581,725, reverse strandBCAS2DENND2C: 114,582,848–114,670,451, reverse strandDENND2CAMPD1: 114,673,098–114,695,546, reverse strandAMPD1NRAS: 114,704,468–114,716,775, reverse strandNRASCSDE1: 114,716,913–114,758,704, reverse strandCSDE1SIKE1: 114,769,479–114,780,706, reverse strandSIKE1SYCP1: 114,854,836–114,995,370, forward strandSYCP1TSHB: 115,029,826–115,034,302, forward strandTSHBTSPAN2: 115,047,056–115,089,528, reverse strandTSPAN2Diagram of AMPD1: 16 exons on the reverse strand of chromosome 1Exon 16: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 16: 114,673,098–114,673,272, 175 basesExon 15: 114,673,639–114,673,749, 111 basesExon 14: 114,673,909–114,674,082, 174 basesExon 13: 114,674,752–114,674,872, 121 basesExon 12: 114,675,530–114,675,693, 164 basesExon 11: 114,675,877–114,676,003, 127 basesExon 10: 114,677,351–114,677,514, 164 basesExon 9: 114,677,910–114,678,041, 132 basesExon 8: 114,678,333–114,678,527, 195 basesExon 7: 114,679,579–114,679,708, 130 basesExon 6: 114,680,259–114,680,478, 220 basesExon 5: 114,684,199–114,684,364, 166 basesExon 4: 114,686,745–114,686,910, 166 basesExon 3: 114,688,561–114,688,741, 181 basesExon 2: 114,693,436–114,693,447, 12 basesExon 1: 114,695,450–114,695,546, 97 bases16141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 22.4 kb; 2,244 of those bases code for the protein.

How a genome test reads AMPD1

5

positions in AMPD1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 22.4 kb of AMPD1, introns included, not only the 2.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). AMPD1 gene: adenosine monophosphate deaminase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ampd1

Vancouver

Dante Labs. AMPD1 gene: adenosine monophosphate deaminase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ampd1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test