Allele/Variant

rs537647914

Species
Homo sapiens
Symbol
rs537647914
Category
Variant
Variant type
SNP
Overlaps
NUP210L
Location
1:154152755
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.154152755A>C
HGVS.c name
  • ENSEMBL:ENST00000271854.3:c.321T>G
  • ENSEMBL:ENST00000368559.8:c.321T>G
HGVS.p name
  • ENSP00000271854:p.Ile107Met
  • ENSP00000357547:p.Ile107Met
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
Viewer Help
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_codingNUP210LExon 2/38
  • missense variant
319atTN/A
[107]I/MN/A
=>
atG
I/M
ENSEMBL:ENST00000368559.8
protein_codingNUP210LExon 2/40
  • missense variant
319atTN/A
[107]I/MN/A
=>
atG
I/M
RefSeq:NM_207308.3
protein_codingNUP210LExon 2/40
  • missense variant
319atTN/A
[107]I/MN/A
=>
atG
I/M
RefSeq:XM_011510124.2
protein_codingNUP210LExon 2/38
  • missense variant
319atTN/A
[107]I/MN/A
=>
atG
I/M
RefSeq:XM_017002789.3
protein_codingNUP210LExon 2/36
  • missense variant
319atTN/A
[107]I/MN/A
=>
atG
I/M
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