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rs50075305 SNP Detail
Summary
  • ID
    rs50075305
  • Variation Type
    SNP
  • Alleles
    A/G
Genome Location and Flanking Sequence
  • Location
    Chr2:127598945 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                                                AAAATTATAA GAAATCAGGG
    TGTCCATAAT GATACAATGA TAACTAATGT CCTCTCCTCC TTGCTAGGGT GATGCCAGAT
    AAATGGTGGC CTGGACTCTT ATCTCTGCCC AGTGGTAAGA AGGCTGTGAG GGGGTGTTGC
    CTAAGGTAAT CCTCACATTA CTTATTACTG AGATAGGAAG TAATCTCCAG ATCAGAGACA
    R
    AGGAACCTGA GACCTGGAGA TGTTAAGGAA CCCAACCGGT CACCCAGGAG GAGCAGGGCC
    CACCCAGAAT CATCTCACTC CAATCTGCCC TCTGTCTGCC TCTCTGTACC CCCTGGGAGC
    TTATGCTCTT GACTTGGGTT TTTATTTTCC CCTATTTAAG ACTGAGATTA CCTATTTTCT
    TGTTAGCTTT TGAGACGGGG                                            
    
    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
129X1/SvJ
DBA/2J
LG/J
SM/J
ss147540753 ENSMUSSNP1098450 ENSEMBL ENSEMBL_Sanger f SNP G G
ss320500685 CHEV_2_127582761 CHEVERUD SCREENING_POP f SNP G A
SNP Consensus Information
SNP Consensus Type
129X1/SvJ
DBA/2J
LG/J
SM/J
rs50075305 SNP G G G A
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr2:127598945 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
Nphp1 nephronophthisis 1 (juvenile) homolog (human) Intron
Rr564596 regulatory region 564596 141 bp proximal
Tssr26143 transcription start site region 26143 1307 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
09/30/2025
MGI 6.24
The Jackson Laboratory