rs47130719 SNP Detail

Summary

• ID
  rs47130719
• Variation Type
  SNP
• Alleles
  A/G

• Created in dbSNP Build
  127
• Last Updated in dbSNP Build
  137
• Additional Resources
  JBrowse Genome Browser | Ensembl SNPView | UCSC Browser | Alliance Variant
  

Genome Location and Flanking Sequence

• Location
  Chr3:27247663 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              AACTGCAGCG ATGGTGGCAG
  TGAGCCTGAT TGAGAGCATC TGCTGGTGGG TGAGGTGAGG TTTGGGTCCT TGGAGGGCAC
  TACTGGGATA TAAGAGGCCT GTTAGTAAAC AGTTGGGTAT GCTGGCTAAC TGGAAGGTAA
  CCTGTTGAGG TCAGGGTCAC AGCAAAAGGG TGGTTGTGTG TGGAGTTGGA TGGAGACTGG
  R
  AAATCTAGTC CAAGGCACTC CTGGGACACG CAGTATCTTA CTGTGAAAAG ACACTCTGAC
  TTCCATTGTG CTCACGCCCC ATACCTCATA TTCCAACACT CATGACACAA AGGCAAGTAA
  TACTGAGAAC TCAAGGCCAG ACTGAGCTAC CTGAGTTAGC CTGGGCTATG TACAACACCT
  CATCCCAGAA AATTAGATCC                                            
  
  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	BALB/cByJ	BTBR T<+> Itpr3/J	C3H/HeJ	CAST/EiJ	DBA/2J	FVB/NJ	KK/HlJ	MOLF/EiJ	NOD/ShiLtJ	NZW/LacJ	PWD/PhJ	WSB/EiJ
ss60380371	NES15883602	PERLEGEN	MM_PANEL2	f	SNP	G	G	G	G	G	G	G	G	G	G	A	G	G	A	G
SNP Consensus Information
SNP					Consensus Type	129S1/SvImJ	A/J	AKR/J	BALB/cByJ	BTBR T<+> Itpr3/J	C3H/HeJ	CAST/EiJ	DBA/2J	FVB/NJ	KK/HlJ	MOLF/EiJ	NOD/ShiLtJ	NZW/LacJ	PWD/PhJ	WSB/EiJ
rs47130719					SNP	G	G	G	G	G	G	G	G	G	G	A	G	G	A	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
ss60380371	NES15883602	PERLEGEN	MM_PANEL	f	SNP	A/G

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr3:27247663 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Nceh1	neutral cholesterol ester hydrolase 1			Intron
				Noncoding-Transcript-Variant
Rr574362	regulatory region 574362			1321 bp distal
Rr574363	regulatory region 574363			273 bp proximal
Tssr28610	transcription start site region 28610			1368 bp downstream
Tssr28611	transcription start site region 28611			746 bp upstream
Tssr28612	transcription start site region 28612			851 bp upstream
Tssr28613	transcription start site region 28613			1180 bp upstream
Tssr32839	transcription start site region 32839			1570 bp upstream
Tssr32840	transcription start site region 32840			1528 bp upstream
Tssr32841	transcription start site region 32841			555 bp downstream
Tssr32842	transcription start site region 32842			610 bp downstream
Tssr32843	transcription start site region 32843			681 bp downstream