rs247712019 SNP Detail

Summary

• ID
  rs247712019
• Variation Type
  SNP
• Alleles
  A/C

• 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
  Chr2:119492016 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              AACTGCCATG ATGAGAAATG
  CAGCCTTAGC TTCACAGAGC TGATGATCGA CCCCAAATAA TTCACGTGTG CCACAAGCTA
  CCTTGAGAGG CTGTGTCAAC TTTAAAGCAG ATTTTCCTTG TGTTTTTAAA AATTATTTAT
  TTTACCATAA AATATATTTA TCATATATTT TACCCGCTGA GCCATCTCTC CAGCCCCCCC
  M
  CCCCCCCACT GAAAGTATCT TAATGGTTGA CTATTCAATG TTGTACGTCC AGGTCCCAGT
  ATGAAGCTCA GTATCCTGAA AACTTATTAT TTGTTGAACC AACAGCTTCA TAATCCTTTA
  TCTCTGTCAC AAGCGTGAGG GTTTACATGC CTATATAATT CCCTCTAACA AGGGGCTTCT
  TAAACTTTAT AGTCCCTTTA                                            
  
  M = A/C
  

  
  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	A/J	AKR/J	BALB/cByJ	BALB/cJ	BTBR T<+> Itpr3/J	BUB/BnJ	C57BL/6J	C57BL/10SnJ	C58/J	CAST/EiJ	CBA/J	CE/J	DBA/1J	DBA/2J	I/LnJ	KK/HlJ	LP/J	MA/MyJ	NOD/ShiLtJ	NON/ShiLtJ	NZB/BlNJ	NZO/HlLtJ	NZW/LacJ	PL/J	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SPRET/EiJ	ST/bJ	SWR/J	WSB/EiJ	ZALENDE/EiJ
ss355434299	MGP_WTSI_2_119487271	EVA_MGPV3	EVA_MGPV3	f	SNP	C	C	C	C	C	C	C	C	A	A	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C
SNP Consensus Information
SNP					Consensus Type	129P2/OlaHsd	129S1/SvImJ	A/J	AKR/J	BALB/cByJ	BALB/cJ	BTBR T<+> Itpr3/J	BUB/BnJ	C57BL/6J	C57BL/10SnJ	C58/J	CAST/EiJ	CBA/J	CE/J	DBA/1J	DBA/2J	I/LnJ	KK/HlJ	LP/J	MA/MyJ	NOD/ShiLtJ	NON/ShiLtJ	NZB/BlNJ	NZO/HlLtJ	NZW/LacJ	PL/J	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SPRET/EiJ	ST/bJ	SWR/J	WSB/EiJ	ZALENDE/EiJ
rs247712019					SNP	C	C	C	C	C	C	C	C	A	A	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C

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
ss355434299	MGP_WTSI_2_119487271	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	A/C/G

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr2:119492016 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Cpgi12124	CpG island 12124			1037 bp proximal
Ndufaf1	NADH:ubiquinone oxidoreductase complex assembly factor 1			Intron
				Noncoding-Transcript-Variant
Rr397235	regulatory region 397235			1137 bp upstream
Rr563557	regulatory region 563557			807 bp proximal
Rr563558	regulatory region 563558			1253 bp proximal
Tssr25825	transcription start site region 25825			1221 bp downstream