rs247256543 SNP Detail

Summary

• ID
  rs247256543
• 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
  Chr5:121849916 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              CGCCGCTCAG CGGCCCGCGG
  CGGGGGACCC CGAGCCGCGC CGCCCGGCGG GCTGGGCCGC GCGGCGCTCG CTCCCGCGGA
  CGGCGCGGCG CGGCGGGCGG GGCGGCGCGG TGGCGTATCC CTCCGCCGGC CCTCCCCCGC
  GCGGCCCCGG CGCCCCTCCC CGCGGGCCGC GCTCGCCACC CTGCGCCTCA GACTGTTTTG
  R
  TAGCAACGGC CACGGCGCGT CCCGGCCCGG CTCCCGGCGG CTGCTCGGTG TCTGCGGGCC
  TCCCCGCCCC TTCGTCGTTG TCCTGCTGCC TCTGGCCCCC GCGGCCACGC CGGCCCGCGC
  CTGCCCGCCC GGCGTCCGCG CGTCCCCGCC GCGCTCCGGC GTCTCCTCCT CGGCGCGCCC
  GGCACCCGGC TGTCCCCGCC                                            
  
  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	129S1/SvImJ	A/J	AKR/J	B10.RIII-H2 H2-T18/(71NS)SnJ	BALB/cJ	BTBR T<+> Itpr3/J	C3H/HeJ	C57BL/6J	C57BL/6NJ	C57BL/10SnJ	C57L/J	CAST/EiJ	CBA/J	CZECHII/EiJ	DBA/2J	FVB/NJ	JF1/MsJ	KK/HlJ	LG/J	LP/J	MA/MyJ	MOLF/EiJ	NOD/ShiLtJ	NON/ShiLtJ	NZO/HlLtJ	NZW/LacJ	PL/J	PWK/PhJ	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SM/J	SPRET/EiJ	SWR/J	WSB/EiJ
ss366502171	MGP_WTSI_5_122161862	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	A	G	G
SNP Consensus Information
SNP					Consensus Type	129S1/SvImJ	A/J	AKR/J	B10.RIII-H2 H2-T18/(71NS)SnJ	BALB/cJ	BTBR T<+> Itpr3/J	C3H/HeJ	C57BL/6J	C57BL/6NJ	C57BL/10SnJ	C57L/J	CAST/EiJ	CBA/J	CZECHII/EiJ	DBA/2J	FVB/NJ	JF1/MsJ	KK/HlJ	LG/J	LP/J	MA/MyJ	MOLF/EiJ	NOD/ShiLtJ	NON/ShiLtJ	NZO/HlLtJ	NZW/LacJ	PL/J	PWK/PhJ	QSi3/Ianm	QSi5/Ianm	RF/J	RIIIS/J	SEA/GnJ	SJL/J	SM/J	SPRET/EiJ	SWR/J	WSB/EiJ
rs247256543					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	A	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
ss366502171	MGP_WTSI_5_122161862	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	A/G

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr5:121849916 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
1700064N11Rik	RIKEN cDNA 1700064N11 gene			within coordinates
Atxn2	ataxin 2			Coding-NonSynonymous
				Intron
				mRNA-UTR
				Noncoding-Transcript-Variant
				Noncoding-Transcript-Variant
Cpgi16531	CpG island 16531			within coordinates
Rr619651	regulatory region 619651			399 bp distal
Rr619652	regulatory region 619652			234 bp distal
Rr619653	regulatory region 619653			within coordinates
Rr619654	regulatory region 619654			1156 bp proximal
Rr619655	regulatory region 619655			1614 bp proximal
Tssr48591	transcription start site region 48591			within coordinates
Tssr48592	transcription start site region 48592			55 bp upstream
Tssr48593	transcription start site region 48593			186 bp upstream
Tssr48594	transcription start site region 48594			215 bp upstream
Tssr48595	transcription start site region 48595			614 bp upstream
Tssr53053	transcription start site region 53053			374 bp upstream