Allele/Variant

rs377764169

Species

Homo sapiens

Symbol

Category

Variant

Variant type

SNP

Overlaps

Location

5:111449207

Nucleotide Change

T>G

Most Severe Consequence

splice region variant&intron variant

See all consequences

HGVS.g name

(GRCh38)5:111449207T>G

HGVS.c name

ENSEMBL:ENST00000282356.9:c.625+4T>G
ENSEMBL:ENST00000502916.5:n.549+4T>G

HGVS.p name

Not Available

Synonyms

Not Available

Notes

Not Available

Cross references

Not Available

References

Not Available

Genome location

Chr5:111223583...111494886 (271.30 kb)

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:ENST00000282356.9	protein_coding		Intron 7/10	splice region variant
	ENSEMBL:ENST00000502916.5	transcript		Intron 6/6	splice region variant
	ENSEMBL:ENST00000505763.1	transcript		Intron 6/6	splice region variant
	ENSEMBL:ENST00000512453.5	protein_coding		Intron 8/11	splice region variant
	ENSEMBL:ENST00000514007.5	transcript		Intron 6/8	splice region variant
	ENSEMBL:ENST00000515231.5	transcript		Intron 5/8	splice region variant
	RefSeq:NM_001323374.2	protein_coding		Intron 8/11	splice region variant
	RefSeq:NM_001323375.2	protein_coding		Intron 8/11	splice region variant
	RefSeq:NM_001323376.2	protein_coding		Intron 5/8	splice region variant
	RefSeq:NM_001323377.2	protein_coding		Intron 6/9	splice region variant

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