rs150484120 Rat Genome Database

rs150484120 Rat Genome Database

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Variant: rs150484120 - Homo sapiens

RGD ID:

15194895

RS ID:

rs150484120

ClinVar ID:

CV723714

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	10	102,056,866
GRCh38	10	100,297,109

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_016112.3:c.1056C>T NM_001253837.2:c.915C>T NG_047099.1:g.54416C>T NC_000010.11:g.100297109G>A More...	08/14/2018	synonymous variant	benign	none provided

Gene Symbol:	PKD2L1
Accession:	NM_001253837
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	305

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPRRRHTGPRCPAAASISVKASEASLPCPLGLWGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYGMTSSSAY YYTKVMSELFLHTPSDTGVSFQAISSMADFWDFAQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRN DSCVVHEDFREDILSCYDVYSPDKEEQLPFGPFNGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRA LQEGLWLDRGTRVVFIDFSVYNANINLFCVLRLVVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYV VEEILELHIHRLRYLSSIWNILDLVVILLSIVAVGFHIFRTLEVNRLMGKLLQQPNTYADFEFLAFWQTQYNNMNAVNLF FAWIKIFKYISFNKTMTQLSSTLARCAKDILGFAVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFDYN AIDNANRILGPAYFVTYVFFVFFVLLNMFLAIINDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKERVSDVQK VLQGGEQEIQFEDFTNTLRELGHAEHEITELTATFTKFDRDGNRILDEKEQEKMRQDLEEERVALNTEIEKLGRSIVSSP QGKSGPEAARAGGWVSGEEFYMLTRRVLQLETVLEGVVSQIDAVGSKLKMLERKGWLAPSPGVKEQAIWKHPQPAPAVTP DPWGVQGGQESEVPYKREEEALEERRLSRGEIPTLQRS*

Gene Symbol:	PKD2L1
Accession:	NM_016112
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	352

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNAVGSPEGQELQKLGSGAWDNPAYSGPPSPHGTLRVCTISSTGPLQPQPKKPEDEPQETAYRTQVSSCCLHICQGIRGL WGTTLTENTAENRELYIKTTLRELLVYIVFLVDICLLTYGMTSSSAYYYTKVMSELFLHTPSDTGVSFQAISSMADFWDF AQGPLLDSLYWTKWYNNQSLGHGSHSFIYYENMLLGVPRLRQLKVRNDSCVVHEDFREDILSCYDVYSPDKEEQLPFGPF NGTAWTYHSQDELGGFSHWGRLTSYSGGGYYLDLPGSRQGSAEALRALQEGLWLDRGTRVVFIDFSVYNANINLFCVLRL VVEFPATGGAIPSWQIRTVKLIRYVSNWDFFIVGCEVIFCVFIFYYVVEEILELHIHRLRYLSSIWNILDLVVILLSIVA VGFHIFRTLEVNRLMGKLLQQPNTYADFEFLAFWQTQYNNMNAVNLFFAWIKIFKYISFNKTMTQLSSTLARCAKDILGF AVMFFIVFFAYAQLGYLLFGTQVENFSTFIKCIFTQFRIILGDFDYNAIDNANRILGPAYFVTYVFFVFFVLLNMFLAII NDTYSEVKEELAGQKDELQLSDLLKQGYNKTLLRLRLRKERVSDVQKVLQGGEQEIQFEDFTNTLRELGHAEHEITELTA TFTKFDRDGNRILDEKEQEKMRQDLEEERVALNTEIEKLGRSIVSSPQGKSGPEAARAGGWVSGEEFYMLTRRVLQLETV LEGVVSQIDAVGSKLKMLERKGWLAPSPGVKEQAIWKHPQPAPAVTPDPWGVQGGQESEVPYKREEEALEERRLSRGEIP TLQRS*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000889346	CLINVAR
dbSNP (RS)	rs150484120	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	PKD2L1	CLINVAR
OMIM	604532	CLINVAR