Allele/Variant

rs207472607

Species
Homo sapiens
Symbol
rs207472607
Category
Variant
Variant type
SNP
Overlaps
ERC1
Location
12:1144549
Nucleotide Change
A>T
Most Severe Consequence
  • intron variant
See all consequences
HGVS.g name
  • (GRCh38)12:1144549A>T
HGVS.c name
  • ENSEMBL:ENST00000347735.10:n.2059+2762A>T
  • ENSEMBL:ENST00000355446.9:c.1737+2762A>T
HGVS.p name
Not Available
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
Viewer Help
Data currently unavailable; sequence viewer under construction

Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSEMBL:ENST00000347735.10
transcriptIntron 7/18
  • intron variant
ENSEMBL:ENST00000355446.9
protein_codingIntron 7/18
  • intron variant
ENSEMBL:ENST00000360905.9
protein_codingIntron 8/18
  • intron variant
ENSEMBL:ENST00000397203.7
protein_codingIntron 8/18
  • intron variant
ENSEMBL:ENST00000440394.7
transcriptIntron 7/19
  • intron variant
ENSEMBL:ENST00000536573.7
transcriptIntron 8/13
  • intron variant
ENSEMBL:ENST00000538971.6
transcriptIntron 5/15
  • intron variant
ENSEMBL:ENST00000542302.6
transcriptIntron 9/20
  • intron variant
ENSEMBL:ENST00000543086.7
protein_codingIntron 7/17
  • intron variant
ENSEMBL:ENST00000545318.3
protein_codingIntron 7/9
  • intron variant
Showing 1 - 10 of 74 rows
per page