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rs48050247 SNP Detail
Summary
  • ID
    rs48050247
  • Variation Type
    SNP
  • Alleles
    C/G
Genome Location and Flanking Sequence
  • Location
    Chr1:18293025 (GRCm39)
  • SNP Orientation to the Genome
    forward
  • SNP Reference Flanking Sequence
                                                ATTCTCAATA ATAAAAGAAC
    TTCTGGTGGA ATCACCATCC CTGACCTCAA GCTGTACTAC AGAGCAATTG TGATAAAAAC
    TACATGGTAT TGGTACAGTG ACAAGCAGGT AGCTCAATGG AATAGAACTG AAGTTTTAAA
    AAAACTGAGT AGAAGTAATT ACACTATTTT TTGCATAAAC AAGAAAAATA GTTGTCCTAT
    S
    TTAAGTTGTC TGAAATATGT CAAGACTATC TGTTCACTCT TCTCCATGAA AATGTTTCCT
    TGTTGAAACT AATCTAAAGT CAGACTAATG AAATTAATGG GATAGAAAGG AGAGCACACC
    GTTCAACCCA TGAAGCTCAA GACAGTAAAT TTGTCTTCTG TTTCTCCTGT AGTAGGCAAC
    AAAGGAGACA TTCTTTCTAT                                            
    
    S = C/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
FVB/NJ
KK/HlJ
MOLF/EiJ
NOD/ShiLtJ
NZW/LacJ
PWD/PhJ
WSB/EiJ
ss60702811 NES16337142 PERLEGEN MM_PANEL2 f SNP C C C C C C C C C G C C G C
SNP Consensus Information
SNP Consensus Type
129S1/SvImJ
A/J
AKR/J
BALB/cByJ
BTBR T<+> Itpr3/J
C3H/HeJ
CAST/EiJ
FVB/NJ
KK/HlJ
MOLF/EiJ
NOD/ShiLtJ
NZW/LacJ
PWD/PhJ
WSB/EiJ
rs48050247 SNP C C C C C C C C C G C C G 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
ss60702811 NES16337142 PERLEGEN MM_PANEL f SNP C/G
Gene/Marker
Associations
and
Function
Classes
MGI genes/markers associated with the SNP
Location: Chr1:18293025 () rs orientation: forward
Symbol Name Transcript Protein Function
Class
Allele Residue Codon
Position
AA
Position
Defb44-ps defensin beta 44, pseudogene within coordinates
Gm71262 predicted gene, 71262 within coordinates
Tssr11066 transcription start site region 11066 769 bp downstream
Tssr11067 transcription start site region 11067 802 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
12/10/2024
MGI 6.24
The Jackson Laboratory