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rs48972693 SNP Detail
Summary
  • ID
    rs48972693
  • Variation Type
    SNP
  • Alleles
    A/C
Genome Location and Flanking Sequence
  • Location
    Chr2:127674718 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                          TCACTTGACC AAAGCAAGTA GAACATAAAA GACTCATGCG
    ATTACTACCT TCCTGTTTCT AAAGGTCCTG GGAGTTTTTC AGCTCCTTCA AGTTGATAAA
    M
    AAGATATTGC AGCTTCTGGA CAGATAGACA TTTTCTAACC TAGAGAAAAG AATTATGAGT
    GATTTCCCAT TTGATTTCCT AGAATCATCT AACTAGAGG                       
    
    M = A/C
    

    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
DBA/2J
ss147542399 ENSMUSSNP3000049 ENSEMBL ENSEMBL_Sanger f SNP A A C
SNP Consensus Information
SNP Consensus Type
129X1/SvJ
A/J
DBA/2J
rs48972693 SNP A A C
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr2:127674718 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
Bub1 BUB1, mitotic checkpoint serine/threonine kinase 933 bp upstream
Cpgi12232 CpG island 12232 722 bp distal
Rr397289 regulatory region 397289 722 bp downstream
Rr564601 regulatory region 564601 950 bp distal
Rr564602 regulatory region 564602 443 bp distal
Rr564603 regulatory region 564603 172 bp proximal
Tssr26147 transcription start site region 26147 923 bp upstream

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
03/18/2025
MGI 6.24
The Jackson Laboratory