rs247944967 SNP Detail

Summary

• ID
  rs247944967
• 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
  Chr3:145855631 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              TCAAAAGAAA TGCAATGAAC
  TTTTGAAGGA GTCAGAGGTC TGGGGGCGGG GGTGGGGTGG TGGGGTGGGG AATGGGGCGG
  GAGGGAGGAG GTCAGGACGG CCAGGGGGGC GGGGTGGACG ACGGGCGGCC TCATAGCAGG
  CTTTCCGGAC GACTTCCCTT TATAAGGGCG TCCACTCCAC CTGCATCTCG CAGACACCCG
  Y
  AGGCGGAGCC GGGTGTGGGG ACCGTGGGGA CTGAGGGAAT TTGGGGTCAC GTCATGCCCG
  GAGACGAGGA GACGCTGGAC CTGCCTGCGT GGAACCGCGT CCCGGACCTG ACTTGGGGTC
  CCCACCACAG GTGGGTACTC CCCCAGTGGA CCATGTCTGG TGGTCGTCTG GATTCCAGCG
  TCCCCTCCTG GAATATCTCC                                            
  
  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
ss360110212	MGP_WTSI_3_145812840	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	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	T	T	T	C	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	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
rs247944967					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	T	T	T	T	T	T	T	T	T	T	T	C	T	T	T	T	T	T	T	C	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
ss360110212	MGP_WTSI_3_145812840	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr3:145855631 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Cpgi13913	CpG island 13913			within coordinates
Mcoln2	mucolipin 2			mRNA-UTR
				Noncoding-Transcript-Variant
Rr586937	regulatory region 586937			within coordinates
Rr586938	regulatory region 586938			175 bp proximal
Rr586939	regulatory region 586939			309 bp proximal
Rr586940	regulatory region 586940			1559 bp proximal
Tssr32333	transcription start site region 32333			47 bp downstream
Tssr32334	transcription start site region 32334			33 bp downstream
Tssr32335	transcription start site region 32335			8 bp downstream
Tssr32336	transcription start site region 32336			352 bp upstream
Tssr32337	transcription start site region 32337			380 bp upstream
Tssr36030	transcription start site region 36030			187 bp upstream