rs48614753 SNP Detail

Summary

• ID
  rs48614753
• Variation Type
  SNP
• Alleles
  C/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
  Chr7:98307232 (GRCm39)
• SNP Orientation to the Genome
  forward

• SNP Reference Flanking Sequence

                                              GAGACCAAAA CAAGAAAAAA
  GAAGAAGTTT TTAAGTAAAT TGTGAACCAC TGCATATGAG TCTACTCCTG CTCCTGAATG
  GAGCTGTAGG TTAGTCAGAA ATAAAAAGGA CCATTTCCTA TACAGCTCTC CTGGCCTTCT
  TATTGCACCC TATTTTGAGG TCAGTTTCTT AAGAATACCT TGCAAGGTAG TAAATTAAGT
  S
  TTCTCGAGAC AGGAATCAAA GGTGTACACC ACCACCACCT CACTGGTAAA TTAAGTTTTA
  ATAGGAGGTT TTGTAATTTA ACAGACATTC TATGATTTGA CTCTTGCAGC ATCTCCGTGA
  GACAGGCGTA ATTAAGCTTC ACCACTCTAT AAATGGGAAA GCACAGTTGT TCAGGAACTG
  GTGAACTGAG AGGGTTCACA                                            
  
  S = C/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
ss61040527	NES16090981	PERLEGEN	MM_PANEL2	f	SNP	C	C	C	C	C	C	C	C	C	C	C	C	C	G	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
rs48614753					SNP	C	C	C	C	C	C	C	C	C	C	C	C	C	G	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
ss61040527	NES16090981	PERLEGEN	MM_PANEL	f	SNP	C/G

Gene/Marker
Associations
and
Function
Classes

MGI genes/markers associated with the SNP

Location: Chr7:98307232 () rs orientation: forward

Symbol	Name	Transcript	Protein	Function Class	Allele	Residue	Codon Position	AA Position
4930558N01Rik	RIKEN cDNA 4930558N01 gene			74 bp downstream
Emsy	EMSY, BRCA2-interacting transcriptional repressor			mRNA-UTR
				Noncoding-Transcript-Variant
Rr368380	regulatory region 368380			1044 bp downstream
Rr651647	regulatory region 651647			1864 bp distal
Rr651648	regulatory region 651648			1490 bp distal
Rr651649	regulatory region 651649			1682 bp distal
Rr651650	regulatory region 651650			1096 bp distal
Rr651651	regulatory region 651651			1394 bp distal
Rr651652	regulatory region 651652			351 bp distal
Tssr68029	transcription start site region 68029			1866 bp downstream
Tssr68030	transcription start site region 68030			1824 bp downstream
Tssr68031	transcription start site region 68031			1079 bp downstream
Tssr73641	transcription start site region 73641			1501 bp upstream
Tssr73642	transcription start site region 73642			1425 bp upstream
Tssr73643	transcription start site region 73643			1212 bp upstream