rs248120943 SNP Detail

Summary

• ID
  rs248120943
• 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
  Chr4:63134190 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GGGGGGCTGG CGGCCCCATG
  GGGCGCGCCC ACACTTGCCC CCCGGGCTCC GCAGCATGAA GTAGGGGCCT GCCATGGGCA
  CGGGATTCGC GCGGGGGGCC CGAGGCACAG CGGCGTCAGG ACCCGGGGGG TGAGTACAAT
  CCCAGGGTTG CCCCCGATTC AGCTTCCTGA ACCTCGGATG TGCACAAGAG TCTGGGGTTC
  Y
  CTGCCGCACC AGACGCTCGC AGAGTAACGT CAGCTTCCTG TAGCTTCCCG CCAGGCGGGA
  CGCCAGGGGT TAACAGGGGC TGTGCACCCC AGGCCGAGCT CTTTTGAGAC TAGGACCAGC
  AAGGGAGGGT CCGCGCAGAG CCAGACCAGC GATCCCAAGA GGGGTCTAGT GGCAGTGCTC
  AGAGTGGCAG GCAGGGGGCA                                            
  
  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	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
ss361730799	MGP_WTSI_4_62876987	EVA_MGPV3	EVA_MGPV3	f	SNP	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	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	T	C	C	C	C
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	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
rs248120943					SNP	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	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	C	T	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
ss361730799	MGP_WTSI_4_62876987	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr4:63134190 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Col27a1	collagen, type XXVII, alpha 1			Intron
				Noncoding-Transcript-Variant
Cpgi14368	CpG island 14368			within coordinates
Rr593489	regulatory region 593489			1992 bp distal
Rr593490	regulatory region 593490			1470 bp distal
Rr593491	regulatory region 593491			508 bp distal
Rr593492	regulatory region 593492			617 bp distal
Rr593493	regulatory region 593493			within coordinates
Tssr1192	transcription start site region 1192			1916 bp downstream
Tssr37533	transcription start site region 37533			1852 bp downstream
Tssr37534	transcription start site region 37534			1803 bp downstream
Tssr37535	transcription start site region 37535			529 bp downstream
Tssr37536	transcription start site region 37536			404 bp downstream
Tssr37537	transcription start site region 37537			385 bp downstream