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rs48500175 SNP Detail
Summary
  • ID
    rs48500175
  • Variation Type
    SNP
  • Alleles
    A/G
Genome Location and Flanking Sequence
  • Location
    Chr5:30327214 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                                                GGAGACACAA AAGGGCCTCT
    GGAGAAAAGC AGTAGTACAT TCTTGGGGAA CTTGTCCCTC ATCTGGACAT CTTTAGCTTG
    GAGGACAGAA AAAGATATGA CAAGGCCTCA GACATTCCAT AGAACAGTAC CCACCTGGAG
    GATTCGCATG ACTTCAGACA TCATGGGTGC AAGACACCTG GTGGTGTAGA AGCCGGGTCC
    R
    TCCTGCCAAG GGAGAGGAAG GGAGCTTACA GCCTTGCTTT GCTGCCCACG ACCACATCCA
    GTATTCCTTT CCCAGACATC ATTCACAGCT TTAGCTGACT TAAGCTCTCA TCAGAATGCT
    CAATGTTATA CTGGAGAAGA AGCCACCTCG AACAGTCTGG GTTTCATGTC ATCTCTGAGG
    TCTGGAGTCA CCAGTGAGGA                                            
    
    R = A/G
    

    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
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
ss61133372 NES16637028 PERLEGEN MM_PANEL2 f SNP G G G G G G A G G G G G G G G
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
rs48500175 SNP G G G G G G A G G G G G G G G
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
ss61133372 NES16637028 PERLEGEN MM_PANEL f SNP A/G
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr5:30327214 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
Del(5D5Mit348-D5Mit389)6Jcs deletion, Chr 5, John C. Schimenti 6 within coordinates
Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha within coordinates
Rr122057 regulatory region 122057 1052 bp distal
Rr128721 regulatory region 128721 1760 bp distal
Tssr50478 transcription start site region 50478 1978 bp upstream
Tssr50479 transcription start site region 50479 1431 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