Allele/Variant

rs770366491

Species
Homo sapiens
Symbol
rs770366491
Category
Variant
Variant type
SNP
Overlaps
NUP210L
Location
1:154000946
Nucleotide Change
C>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:154000946C>A
HGVS.c name
  • ENSEMBL:ENST00000271854.3:c.4931-5766G>T
  • ENSEMBL:ENST00000368553.5:c.1730-5766G>T
HGVS.p name
  • ENSP00000357547:p.Ala1766Ser
  • NP_997191:p.Ala1766Ser
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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154.00M154.02M154.04M154.06M154.08M154.10M154.12M154.14M

Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSEMBL:ENST00000271854.3
protein_codingNUP210LIntron 35/37
  • intron variant
ENSEMBL:ENST00000368553.5
protein_codingNUP210LIntron 13/15
  • intron variant
ENSEMBL:ENST00000368559.8
protein_codingNUP210LExon 37/40
  • missense variant
5296GcaN/A
[1766]A/SN/A
=>
Tca
A/S
RefSeq:NM_207308.3
protein_codingNUP210LExon 37/40
  • missense variant
5296GcaN/A
[1766]A/SN/A
=>
Tca
A/S
RefSeq:XM_011510124.2
protein_codingNUP210LIntron 36/37
  • intron variant
RefSeq:XM_017002789.3
protein_codingNUP210LExon 36/36
  • 3 prime UTR variant
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