rs248837472 SNP Detail

Summary

• ID
  rs248837472
• 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
  Chr3:145857729 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GGCGAGATAC ATAACCTTAA
  GAGTTATTTT TATTTGACTT TTGTTTTTCA TTTGGGGCTT AAATGATTTT TTAATGTGTT
  CTGTGTCATC TAGAGTGTGC ATTGCTAAAT GACACAGACT TGCACGTGCA CGGAAATGGC
  TTTTGGAGGC TTGTAGATGT GACATATACC ATAGGCAGGT GCACGGCTGT CCAGTACTGG
  Y
  GGGAAGAGAG GACTGTGGCG TTGTAAAGTG TGGACGGAAG AGAGGTGATG CAGAGGTGGG
  GGAAATGCCC ATGGGTGCAA ATTCTGATAT TTTATGTACA AGGGGCCAAG GACGCAGCTC
  TCTCTGGAAA TGAGCACCAA GTTTGCACTA TCAACAGCTG CTCACGTTGT TCTTGATACT
  GTCAGCCAAC AGCACACACC                                            
  
  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
ss360110264	MGP_WTSI_3_145814938	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	C	T	T	C	T	T	T	T	C	T	C	T	T	T	C	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	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
rs248837472					SNP	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	T	C	T	T	C	T	T	T	T	C	T	C	T	T	T	C	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
ss360110264	MGP_WTSI_3_145814938	SC_MOUSE_GENOMES	SC_MOUSE_GENOMES	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr3:145857729 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Cpgi13913	CpG island 13913			1476 bp distal
Mcoln2	mucolipin 2			Intron
				Noncoding-Transcript-Variant
Rr398113	regulatory region 398113			359 bp upstream
Rr586937	regulatory region 586937			1790 bp distal
Rr586938	regulatory region 586938			1902 bp distal
Rr586939	regulatory region 586939			690 bp distal
Rr586940	regulatory region 586940			within coordinates
Rr586941	regulatory region 586941			977 bp proximal
Rr586942	regulatory region 586942			1830 bp proximal
Tssr32336	transcription start site region 32336			1725 bp downstream
Tssr32337	transcription start site region 32337			1689 bp downstream
Tssr36031	transcription start site region 36031			1899 bp downstream