Product Details

SNP ID
rs199772940
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:52060458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAAATCTAAACCATTGCCTTGAA[C/T]TCATTGAGCAAGTTGCCAAGGTGCA
Phenotype
MIM: 612814
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPATA18 PubMed Links

Gene Details

Gene
SPATA18
Gene Name
spermatogenesis associated 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297608.1 15 Missense Mutation CTC,TTC L43F NP_001284537.1
NM_145263.3 15 Missense Mutation CTC,TTC L43F NP_660306.1
XM_005265716.1 15 UTR 5 XP_005265773.1
XM_005265717.2 15 Missense Mutation CTC,TTC L43F XP_005265774.1
XM_005265718.1 15 Intron XP_005265775.1
XM_011534369.1 15 UTR 5 XP_011532671.1
XM_011534370.1 15 UTR 5 XP_011532672.1
XM_011534372.1 15 Intron XP_011532674.1
XM_017007731.1 15 UTR 5 XP_016863220.1

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