rs531194947

---

Species

Homo sapiens

Symbol

rs531194947

Category

Variant

Variant type

SNP

Overlaps

SDE2

Location

1:225992401

Nucleotide Change

T>G

Most Severe Consequence

• missense variant

See all consequences

HGVS.g name

• (GRCh38)1:225992401T>G

Show All 5

HGVS.c name

• ENSEMBL:ENST00000272091.8:c.517A>C
• RefSeq:NM_152608.4:c.517A>C

HGVS.p name

• ENSP00000272091:p.Lys173Gln
• NP_689821:p.Lys173Gln

Synonyms

Not Available

Notes

Not Available

Cross references

Not Available

References

Not Available

Variant Molecular Consequences