rs247980863 SNP Detail

Summary

• ID
  rs247980863
• Variation Type
  SNP
• Alleles
  C/T

• 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
  Chr2:164248392 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              TGAGAGCCAG AGAAAAACAG
  AGTGGAGTCA CATAGTAGAC CAAAGGGGAT ACCTTAGCTT GAAAGGTCAA GGAGGTCAAA
  GGGCTCTTTA AGAAGTGACA TTGGAGCTGA TGTACCAGTG CTGAGATAGA GCCAGGCATG
  GGAAAACTCC AGGAAGCATT CTAACTGGAA GCAATAGAAA ACGCAAGGAC CTCAAGGCTA
  Y
  ATACTCAGTA CTGTAAGAGG ATGAAAGGGG GAGACTGGTC AGAAGAGGGG GACGTTAGAG
  AAGATGACAG GAGAAGCAGT GTCCAGGTCA TGTGAGGATT TGGGATTTTA AACCACAAGG
  GATGTTGATA AGAGGACATC ACAATTTGAT TCATTTTCAT TATTATTAAT AATATCGTTT
  ATTTTGTTAT ATTTTGGGGG                                            
  
  Y = C/T
  

  
  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
ss356431423	MGP_WTSI_2_164231972	EVA_MGPV3	EVA_MGPV3	f	SNP	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	C	C	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	T	T	T	T	T	T	T	T
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
rs247980863					SNP	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	C	C	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	T	T	T	T	T	T	T	T

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
ss356431423	MGP_WTSI_2_164231972	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr2:164248392 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Cpgi12657	CpG island 12657			1474 bp distal
Cpgi12658	CpG island 12658			1370 bp proximal
Matn4	matrilin 4			1312 bp upstream
Rbpjl	recombination signal binding protein for immunoglobulin kappa J region-like			Intron
				Noncoding-Transcript-Variant
Rr569598	regulatory region 569598			1871 bp distal
Rr569599	regulatory region 569599			1368 bp distal
Rr569600	regulatory region 569600			1079 bp distal
Rr569601	regulatory region 569601			1204 bp proximal
Rr569602	regulatory region 569602			1426 bp proximal
Tssr21580	transcription start site region 21580			1175 bp downstream
Tssr27451	transcription start site region 27451			1851 bp upstream
Tssr27452	transcription start site region 27452			1648 bp upstream
Tssr27453	transcription start site region 27453			1615 bp upstream