• Gene id: 172

Gene Summary

• Gene Symbol: AFG3L1P   Gene   UCSC   Ensembl
• Aliases: AFG3, AFG3L1
• Gene name: AFG3 like matrix AAA peptidase subunit 1, pseudogene
• Alternate names: AFG3 (ATPase family gene 3, yeast)-like 1, AFG3 ATPase family gene 3-like 1, pseudogene, AFG3 ATPase family member 3-like 1, pseudogene, AFG3 like AAA ATPase 1, pseudogene,
• Gene location: 16q24.3 (89972579: 90000786)     Exons: 14     NC_000016.10
• OMIM: 611865

SNPs

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

rs1800566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.69711242G>A
NC_000016.9   g.69745145G>A
NG_011504.2   g.20389C>T
NG_011504.1   g.20389C>T
NM_000903.3   c.559C>T
NM_000903.2   c.559C>T
NM_001025433.2   c.457C>T
NM_001025433.1   c.457C>T
NM_001025434.2   c.445C>T
NM_001025434.1   c.445C>T
NM_001286137.  

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881