rs48417739 SNP Detail

Summary

• ID
  rs48417739
• Variation Type
  SNP
• Alleles
  C/T

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

Genome Location and Flanking Sequence

• Location
  Chr5:30327081 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GTGTGATACA ATGGTAGTCA
  GGCCATTCTG GGAGGCTCTG GCTCCTGCAA TGCTGGGGGA GCAACCAGCA GAGTTAACAC
  TCTGCCTGTT GGGCACAGTC TTAGTCCCAG GACATCCTGT TTCAGTGTGA GAGGGAGACA
  CAAAAGGGCC TCTGGAGAAA AGCAGTAGTA CATTCTTGGG GAACTTGTCC CTCATCTGGA
  Y
  ATCTTTAGCT TGGAGGACAG AAAAAGATAT GACAAGGCCT CAGACATTCC ATAGAACAGT
  ACCCACCTGG AGGATTCGCA TGACTTCAGA CATCATGGGT GCAAGACACC TGGTGGTGTA
  GAAGCCGGGT CCGTCCTGCC AAGGGAGAGG AAGGGAGCTT ACAGCCTTGC TTTGCTGCCC
  ACGACCACAT CCAGTATTCC                                            
  
  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	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
ss61133373	NES16637020	PERLEGEN	MM_PANEL2	f	SNP	C	C	C	C	C	C	T	C	C	C	C	C	C	C	C
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
rs48417739					SNP	C	C	C	C	C	C	T	C	C	C	C	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
ss61133373	NES16637020	PERLEGEN	MM_PANEL	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr5:30327081 () rs orientation: forward

Symbol	Name	Function Class
Del(5D5Mit348-D5Mit389)6Jcs	deletion, Chr 5, John C. Schimenti 6	within coordinates
Hadha	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	within coordinates
Rr122057	regulatory region 122057	919 bp distal
Rr128721	regulatory region 128721	1627 bp distal
Tssr50478	transcription start site region 50478	1845 bp upstream
Tssr50479	transcription start site region 50479	1298 bp upstream