Product Details

SNP ID
rs147878586
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:100612903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCGTTGTCCCGGTCCTGGTCTTT[C/T]CCCCGGATCTAGTATTCAGGGCGGA
Phenotype
MIM: 609125 MIM: 600270 MIM: 604720
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MOSPD3 PubMed Links

Gene Details

Gene
MOSPD3
Gene Name
motile sperm domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040097.1 260 Missense Mutation CCC,TCC P38S NP_001035186.1
NM_001040098.1 260 Missense Mutation CCC,TCC P38S NP_001035187.1
NM_001040099.1 260 Missense Mutation CCC,TCC P38S NP_001035188.1
NM_023948.4 260 Missense Mutation CCC,TCC P38S NP_076438.1
XM_005250529.4 260 Missense Mutation CCC,TCC P38S XP_005250586.1
XM_005250531.3 260 Missense Mutation CCC,TCC P38S XP_005250588.1
Gene
PCOLCE
Gene Name
procollagen C-endopeptidase enhancer
There are no transcripts associated with this gene.

Gene
PCOLCE-AS1
Gene Name
PCOLCE antisense RNA 1
There are no transcripts associated with this gene.

Gene
TFR2
Gene Name
transferrin receptor 2
There are no transcripts associated with this gene.

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