rs2127773221 Rat Genome Database

rs2127773221 Rat Genome Database

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

Advanced Search (OLGA)

Variant: rs2127773221 - Homo sapiens

RGD ID:

153000334

RS ID:

rs2127773221

ClinVar ID:

CV1685361

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

POLH

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	43,550,190
GRCh38	6	43,582,453

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009252.1:g.11313G>A NC_000006.12:g.43582453G>A NC_000006.11:g.43550190G>A NM_006502.2:c.134G>A More...	09/26/2021	intron variant	uncertain significance	Xeroderma pigmentosa

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1685361	Human	xeroderma pigmentosum		IAGP		8554872	ClinVar Annotator: match by term: Xeroderma pigmentosum	ClinVar

Gene Symbol:	POLH
Accession:	NM_001291969
Location:	5UTRS;INTRON

Gene Symbol:	POLH
Accession:	NM_001291970
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGDGIIAVSYEARAFGVTRSMWADDAKKLCPDLLLAQV RESRGKANLTKYREASVEVMEIMSRFAVIERASIDEAYVDLTSAVQERLQKLQGQPISADLLPSTYIEGLPQGPTTAEET VQKEGMRKQGLFQWLDSLQIDNLTSPDLQLTVGAVIVEEMRAAIERETGFQCSAGISHNKVLAKLACGLNKPNRQTLVSH GSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYAMCRGIEHDPVKPRQLPKTIG CSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDNDRVATQLVVSIRVQGDKRLSSLRRCCALTRYDAHKMSHDAF TVIKNCNTSGIQTE*

Gene Symbol:	POLH
Accession:	NM_006502
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	45

Amino Acid Sequence (Calculated using NCBI transcript definition)
MATGQDRVVALVDMDCFFVQVEQRQNPHLRNKPCAVVQYKSWKGDGIIAVSYEARAFGVTRSMWADDAKKLCPDLLLAQV RESRGKANLTKYREASVEVMEIMSRFAVIERASIDEAYVDLTSAVQERLQKLQGQPISADLLPSTYIEGLPQGPTTAEET VQKEGMRKQGLFQWLDSLQIDNLTSPDLQLTVGAVIVEEMRAAIERETGFQCSAGISHNKVLAKLACGLNKPNRQTLVSH GSVPQLFSQMPIRKIRSLGGKLGASVIEILGIEYMGELTQFTESQLQSHFGEKNGSWLYAMCRGIEHDPVKPRQLPKTIG CSKNFPGKTALATREQVQWWLLQLAQELEERLTKDRNDNDRVATQLVVSIRVQGDKRLSSLRRCCALTRYDAHKMSHDAF TVIKNCNTSGIQTEWSPPLTMLFLCATKFSASAPSSSTDITSFLSSDPSSLPKVPVTSSEAKTQGSGPAVTATKKATTSL ESFFQKAAERQKVKEASLSSLTAPTQAPMSNSPSKPSLPFQTSQSTGTEPFFKQKSLLLKQKQLNNSSVSSPQQNPWSNC KALPNSLPTEYPGCVPVCEGVSKLEESSKATPAEMDLAHNSQSMHASSASKSVLEVTQKATPNPSLLAAEDQVPCEKCGS LVPVWDMPEHMDYHFALELQKSFLQPHSSNPQVVSAVSHQGKRNPKSPLACTNKRPRPEGMQTLESFFKPLTH*

Gene Symbol:	POLR1C
Accession:	NM_203290
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001363658
Location:	INTRON

Gene Symbol:	POLH
Accession:	XM_047418900
Location:	INTRON

Gene Symbol:	POLR1C
Accession:	NM_001318876
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002259287	CLINVAR
dbSNP (RS)	rs2127773221	CLINVAR
MedGen	C0043346	CLINVAR
NCBI Gene	POLH	CLINVAR
OMIM	603968	CLINVAR
SNOMED CT	44600005	CLINVAR