rs50479483 SNP Detail

Summary

• ID
  rs50479483
• Variation Type
  SNP
• Alleles
  A/C

• 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
  Chr6:84122526 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              CGAGAAATTG TGTGTGTGTG
  TGTGTGTGTG TGTGTGTGTG TGTGTGTGTG TGTGTATTTG TGTAGGGTGT GTGTGTGTGT
  GTGTGTGTCT GGATGTGTTA TAGGAGTCAT CTAGGTATAA CAGATGTCAG AGAACAAGGC
  TATAAAAAGT TTCTAGAGTG TTTGGAGAAA TTGGGGGAAA GGTGAGTTTT GCCCTGAAGG
  M
  TGTACCAGGT TCTAGAAGGT GGTATAGAAA ACTGTCTCAG CCATGAGCAG GCACACCTAG
  CAAGGGCTCA GAGAGGACCT GATGATGATG GCAGAGCAGG TAGCAGTACA GTCAAGGAGA
  GCCACTTCTT TGCCTGCTCC TATCTCTGCT GAATCCCCTT CCCTTACTCC TGTATCTTCT
  CACAGTCATT GCTTAGTAAT                                            
  
  M = A/C
  

  
  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
ss60905093	NES15952158	PERLEGEN	MM_PANEL2	f	SNP	A	A	A	A	A	A	A	A	A	A	C	A	A	C	A
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
rs50479483					SNP	A	A	A	A	A	A	A	A	A	A	C	A	A	C	A

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
ss60905093	NES15952158	PERLEGEN	MM_PANEL	f	SNP	A/C

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr6:84122526 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
Dysf	dysferlin			Intron
				Noncoding-Transcript-Variant
Rr632999	regulatory region 632999			761 bp distal
Rr633000	regulatory region 633000			1316 bp proximal