rs48999340 SNP Detail

Summary

• ID
  rs48999340
• 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
  Chr6:84122007 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GCTATGTGGG TTGAGAGGAG
  TCTAAGGATG GCTTCTGTTG GTGGGAGGAG ACCCTCAACT GTTCCTGGAT ATCTGGGTCT
  GAGTTAGCTT GACCGGCACC CTGCCCACCT ATGAATCCCC ACTTGTAGGT GGTCCCAGGT
  TTATGCAGTC TTCAGGACAG GCATAGGAGT TGGGTTAATA TGGCTGCCTG TGATTAGGTT
  Y
  GTGGTATTGA CTTGTCCTTG GGGTCTGAAC TCCTCAGTCC CAGTCACCCG CGAGACAGCC
  AATCAGACAC TTTGGTTGCG TTTGCAGTTT GGCCCTCCCT TCCTAGTGAT CTGGTGCAGT
  TATGTCCTGC TTTGTTAAGT GTCCCAGTAC CCATACTGTT CTGGAGAGAC AGATTTGGGC
  CCCATAGGTA GGCTGAACCA                                            
  
  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
ss60905097	NES15952242	PERLEGEN	MM_PANEL2	f	SNP	T	T	T	T	T	T	C	T	T	T	C	T	T	C	T
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
rs48999340					SNP	T	T	T	T	T	T	C	T	T	T	C	T	T	C	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
ss60905097	NES15952242	PERLEGEN	MM_PANEL	f	SNP	C/T

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr6:84122007 () 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			242 bp distal
Rr633000	regulatory region 633000			1835 bp proximal