rs247054516 SNP Detail

Summary

• ID
  rs247054516
• Variation Type
  SNP
• Alleles
  A/G

• Created in dbSNP Build
  137
• Last Updated in dbSNP Build
  137
• Additional Resources
  JBrowse Genome Browser | Ensembl SNPView | UCSC Browser | Alliance Variant
  

Genome Location and Flanking Sequence

• Location
  Chr12:73956889 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              TAATATCACT AAAAGATAAT
  AAACATGAGT GATGGGCCAC TCAACAACAC TTATAGGTGC CATTTATTAA ATATGTCTTT
  TTGTAATCAC AATTTCATTG AAAGATTGAG AAGTAAAAAC TTTCTTTCTC CAATTATTCC
  ACCTTAAATG AGCCTCCAAA GTGAACCTGG GGGAAAGGAT TTGGCTTTTT TAAATAGAGA
  R
  TATAGAAAAC TCAAACCTTG AAGATTTGGA AGAAAGCAGA ACAGAAAATG CATAATAGAT
  TTAATAGGAG GTATGTGCTG TTGACTCTTA GCTGTTAGGG CTAAGCGTGA TTGACCTAGT
  ATGTGTATGG ACTCTTAGAT TGCAGAAGAA TGTCAAGCTC GTTTTGTTCC TAGCTGAACT
  TTTCGAAGCC CCCCCCCCCC                                            
  
  R = A/G
  

  
  Note: Sequence in lower case indicates low-complexity or repetitive sequence

  ---

SNP Assays
and
SNP Consensus

Strain alleles of submitted assays, and consensus values for this SNP

Assay ID	Submitter SNP ID	Submitter Handle	Population	ss orientation	Variation Type	129P2/OlaHsd	129S1/SvImJ	129S5/SvEvBrd	A/J	AKR/J	B10.RIII-H2 H2-T18/(71NS)SnJ	BALB/cByJ	BALB/cJ	BTBR T<+> Itpr3/J	BUB/BnJ	C3H/HeH	C3H/HeJ	C57BL/6J	C57BL/6NJ	C57BL/10J	C57BL/10SnJ	C57BR/cdJ	C57L/J	C58/J	CAST/EiJ	CBA/J	CE/J	CZECHII/EiJ	DBA/1J	DBA/2J	FVB/NJ	I/LnJ	JF1/MsJ	KK/HlJ	LEWES/EiJ	LG/J	LP/J	MA/MyJ	MOLF/EiJ	NOD/ShiLtJ	NON/ShiLtJ	NZB/BlNJ	NZO/HlLtJ	NZW/LacJ	PL/J	PWK/PhJ	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SM/J	SPRET/EiJ	ST/bJ	SWR/J	WSB/EiJ	ZALENDE/EiJ
ss386495928	MGP_WTSI_12_75011102	EVA_MGPV3	EVA_MGPV3	f	SNP	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	A	G	G	G	G
SNP Consensus Information
SNP					Consensus Type	129P2/OlaHsd	129S1/SvImJ	129S5/SvEvBrd	A/J	AKR/J	B10.RIII-H2 H2-T18/(71NS)SnJ	BALB/cByJ	BALB/cJ	BTBR T<+> Itpr3/J	BUB/BnJ	C3H/HeH	C3H/HeJ	C57BL/6J	C57BL/6NJ	C57BL/10J	C57BL/10SnJ	C57BR/cdJ	C57L/J	C58/J	CAST/EiJ	CBA/J	CE/J	CZECHII/EiJ	DBA/1J	DBA/2J	FVB/NJ	I/LnJ	JF1/MsJ	KK/HlJ	LEWES/EiJ	LG/J	LP/J	MA/MyJ	MOLF/EiJ	NOD/ShiLtJ	NON/ShiLtJ	NZB/BlNJ	NZO/HlLtJ	NZW/LacJ	PL/J	PWK/PhJ	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SM/J	SPRET/EiJ	ST/bJ	SWR/J	WSB/EiJ	ZALENDE/EiJ
rs247054516					SNP	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	G	A	G	G	G	G

Additional submitted assays for this SNP, where the strain of origin for observed alleles is not specified by the submitter

Assay ID	Submitter SNP ID	Submitter Handle	Population	ss orientation	Variation Type	Alleles
ss386495928	MGP_WTSI_12_75011102	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	A/G

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr12:73956889 () rs orientation: forward

Symbol	Name	Function Class
Cpgi4761	CpG island 4761	1101 bp distal
Gm20235	predicted gene, 20235	440 bp upstream
Hif1a	hypoxia inducible factor 1, alpha subunit	Intron
Rr467872	regulatory region 467872	621 bp distal
Rr467874	regulatory region 467874	880 bp distal
Tssr113841	transcription start site region 113841	1945 bp downstream
Tssr113842	transcription start site region 113842	1879 bp downstream
Tssr113843	transcription start site region 113843	1734 bp downstream
Tssr113844	transcription start site region 113844	495 bp downstream
Tssr113845	transcription start site region 113845	within coordinates