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rs48050005 SNP Detail
Summary
  • ID
    rs48050005
  • Variation Type
    SNP
  • Alleles
    C/T
Genome Location and Flanking Sequence
  • Location
    Chr7:59652583 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                          ATAACCTCTA GATTCCTTCT CCCCCTACCC CATCTTCCAA
    ATACCAGAAT TCATGGAAAA ATTCAACTCC CCGCTTCCCC CCACCTTCCA TTATCAAAGG
    Y
    CTTGGAAGAT AAGAGGAAGA AACCTGCACA AACAAGTCTC CTTTTTCTCC CCGTTCCCTA
    CTGTGACACT GCAGGAAAGG AGGGGTAAAG ATACTCAGC                       
    
    Y = C/T
    

    Note: Sequence in lower case indicates low-complexity or repetitive sequence
    BLAST SNP flanking sequence against the mouse Genome
SNP Assays
and
SNP Consensus
Strain alleles of submitted assays, and consensus values for this SNP
Legend
Assay ID Submitter
SNP ID
Submitter
Handle
Population
ss orientation
Variation Type
129X1/SvJ
A/J
ss144685545 ENSMUSSNP1257586 ENSEMBL ENSEMBL_Sanger f SNP C T
SNP Consensus Information
SNP Consensus Type
129X1/SvJ
A/J
rs48050005 SNP C T
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr7:59652583 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
Cpgi19176 CpG island 19176 1473 bp proximal
Del(7Ube3a-Snrpn)1Alb Deletion, Chr 7, Beaudet 1 within coordinates
Gm38393 predicted gene, 38393 Intron
Gm72353 predicted gene, 72353 829 bp upstream
Rr647544 regulatory region 647544 339 bp proximal
Rr647545 regulatory region 647545 840 bp proximal
Snrpn small nuclear ribonucleoprotein N Intron
Snurf SNRPN upstream reading frame Intron
Tssr66968 transcription start site region 66968 854 bp upstream
Tssr66969 transcription start site region 66969 1586 bp upstream
Tssr72702 transcription start site region 72702 148 bp downstream
Tssr72703 transcription start site region 72703 226 bp downstream
Tssr72704 transcription start site region 72704 303 bp downstream
Tssr72705 transcription start site region 72705 329 bp downstream
Tssr72706 transcription start site region 72706 1131 bp downstream

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory