rs48715769 SNP Detail

Summary

• ID
  rs48715769
• 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 | Alliance Variant
  

Genome Location and Flanking Sequence

• Location
  Chr6:84124603 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GGGCTCCCAC TGTGGGGAGT
  CGAGTTCTCA GGCCTTACAG AGGATGCCAT CACTGCAGTG CTCCGGGGAG CTAGAAAGGA
  AGGTGGAGCC TAGCCCACAG CTAGCTGATG GTTTTCTGTG GTGATTGTCA AAGAAATGGG
  TGACTGGTGA GGGAGATTGT CCTGCCTCCT CATTTGGCAA AGCTTAGAGG CAAACACTTT
  Y
  AGTTGTCAAC CCCTGCCTTT TGGCCTTAGT CCCACAGTAG CTTGGGCATC AGCCATAGAG
  GGTTAAGAAT ATACTGCACA AAGCTTAGCC CTTAAAATAG GCCACCCTGC TGCATAGCCA
  CCTGCAAATG CAGCTCATGG CTGGTGTCTT GGTGCCGCCT GGGGTTCTGT TAGCAGCCCG
  GCTTCTATTG TGGTTGTGCA                                            
  
  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
ss60905067	NES15952152	PERLEGEN	MM_PANEL2	f	SNP	C	C	C	C	C	C	C	C	C	C	T	C	C	T	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
rs48715769					SNP	C	C	C	C	C	C	C	C	C	C	T	C	C	T	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
ss60905067	NES15952152	PERLEGEN	MM_PANEL	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr6:84124603 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Dysf	dysferlin			Intron
				Noncoding-Transcript-Variant
Rr368107	regulatory region 368107			55 bp upstream
Rr633000	regulatory region 633000			740 bp distal
Rr633001	regulatory region 633001			22 bp proximal
Rr633002	regulatory region 633002			945 bp proximal
Rr633003	regulatory region 633003			1012 bp proximal