RGD:8635614 Rat Genome Database

RGD:8635614 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Variant: RGD:8635614 - Homo sapiens

RGD ID:

8635614

ClinVar ID:

CV90836

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KLHL25 LOC127830539

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	86,312,992
GRCh38	15	85,769,761

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_022480.3:c.50C>T NC_000015.10:g.85769761G>A NC_000015.9:g.86312992G>A NR_031682.1:c.83+d735C>T More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	KLHL25
Accession:	XM_047432937
Location:	EXON
Amino Acid Prediction:	S to Y (nonsynonymous)
Amino Acid Position:	17

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGYMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETEDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

Gene Symbol:	KLHL25
Accession:	XM_047432938
Location:	EXON
Amino Acid Prediction:	S to Y (nonsynonymous)
Amino Acid Position:	17

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGYMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETEDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

Gene Symbol:	KLHL25
Accession:	NM_022480
Location:	EXON
Amino Acid Prediction:	S to Y (nonsynonymous)
Amino Acid Position:	17

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVSVHETRKSRSSTGYMNVTLFHKASHPDCVLAHLNTLRKHCMFTDVTLWAGDRAFPCHRAVLAASSRYFEAMFSHGLR ESRDDTVNFQDNLHPEVLELLLDFAYSSRIAINEENAESLLEAGDMLQFHDVRDAAAEFLEKNLFPSNCLGMMLLSDAHQ CRRLYEFSWRMCLVHFETVRQSEDFNSLSKDTLLDLISSDELETEDERVVFEAILQWVKHDLEPRKVHLPELLRSVRLAL LPSDCLQEAVSSEALLMADERTKLIMDEALRCKTRILQNDGVVTSPCARPRKAGHTLLILGGQTFMCDKIYQVDHKAKEI IPKADLPSPRKEFSASAIGCKVYVTGGRGSENGVSKDVWVYDTVHEEWSKAAPMLIARFGHGSAELENCLYVVGGHTSLA GVFPASPSVSLKQVEKYDPGANKWMMVAPLRDGVSNAAVVSAKLKLFVFGGTSIHRDMVSKVQCYDPSENRWTIKAECPQ PWRYTAAAVLGSQIFIMGGDTEFTAASAYRFDCETNQWTRIGDMTAKRMSCHALASGNKLYVVGGYFGTQRCKTLDCYDP TSDTWNCITTVPYSLIPTAFVSTWKHLPA*

Variant Samples