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rs48280935 SNP Detail
Summary
  • ID
    rs48280935
  • Variation Type
    SNP
  • Alleles
    C/T
Genome Location and Flanking Sequence
  • Location
    Chr12:52650551 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                                                GCATAACCCC AAGGTAAACC
    ACACGGACCC ACGCCGCCAG CGTGATCCCC ACTAAGCAGC AGGGGTTCAT GAGCATAGCT
    ACACAGTTTC ACTGAAAAAA CTTTTTCTTT GTTCCCGGGT TTACTGGGAG GCTAGGAGAA
    AAACGCGGGT CAAAGTCACC CTAACTTAAA AAGTCAGGAA TTCTTCGTCC TTATATAGTC
    Y
    ACGGCTAGAC ACTACGATCG TGCTCGCTTC GGCAGCACAT ATACTAAAAT TGGAACGATA
    CAGAGAAGAT TAGCATGGCC CCTGCGCAAG GATGACACGC AAATTCGTGA AGCGTTCCAT
    ATTTTGGCTC TGCTTACTAT GAACAGGTCA TTGGACCAAA TTCCAAACAA TAACTTTTGA
    CTTCTCCCTC ACAGCGTCTC                                            
    
    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
129S1/SvImJ
129X1/SvJ
A/J
AKR/J
BALB/cByJ
BTBR T<+> Itpr3/J
C3H/HeJ
DBA/2J
FVB/NJ
KK/HlJ
MOLF/EiJ
NOD/ShiLtJ
NZW/LacJ
PWD/PhJ
WSB/EiJ
ss52424003 NES15399373 PERLEGEN MM_PANEL2 f SNP T C C C C C C C C C C C C C
ss137738345 ENSMUSSNP1623995 ENSEMBL ENSEMBL_Sanger f SNP T C
SNP Consensus Information
SNP Consensus Type
129S1/SvImJ
129X1/SvJ
A/J
AKR/J
BALB/cByJ
BTBR T<+> Itpr3/J
C3H/HeJ
DBA/2J
FVB/NJ
KK/HlJ
MOLF/EiJ
NOD/ShiLtJ
NZW/LacJ
PWD/PhJ
WSB/EiJ
rs48280935 SNP T T C C C C C C C C C C C C 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
ss52424003 NES15399373 PERLEGEN MM_PANEL f SNP C/T
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr12:52650551 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
1700031P21Rik RIKEN cDNA 1700031P21 gene 1446 bp upstream
Cpgi4596 CpG island 4596 within coordinates
Cpgi4597 CpG island 4597 873 bp proximal
Gm23296 predicted gene, 23296 717 bp downstream
Gm24859 predicted gene, 24859 20 bp upstream
Gm35239 predicted gene, 35239 1069 bp upstream
Gm59577 predicted gene, 59577 657 bp downstream
Rr369517 regulatory region 369517 916 bp upstream
Rr403283 regulatory region 403283 within coordinates
Rr403284 regulatory region 403284 648 bp upstream
Rr466025 regulatory region 466025 1461 bp distal
Rr466026 regulatory region 466026 885 bp distal
Rr466027 regulatory region 466027 586 bp proximal
Rr466028 regulatory region 466028 1115 bp proximal
Tssr116285 transcription start site region 116285 1420 bp upstream
Tssr116286 transcription start site region 116286 1397 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
12/17/2024
MGI 6.24
The Jackson Laboratory