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GAAACTTTACGAACGTTGCAGGAAA[A/G]GCTAGACTTCTGGCTGAAGGAGTAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 612814 | ||||||||||||||||||||
Literature Links: |
SPATA18 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SPATA18 - spermatogenesis associated 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297608.1 | 348 | Missense Mutation | AAG,AGG | K,R 20 | NP_001284537.1 | |
NM_145263.3 | 348 | Missense Mutation | AAG,AGG | K,R 20 | NP_660306.1 | |
XM_005265716.1 | 348 | UTR 5 | XP_005265773.1 | |||
XM_005265717.2 | 348 | Missense Mutation | AAG,AGG | K,R 20 | XP_005265774.1 | |
XM_005265718.1 | 348 | UTR 5 | XP_005265775.1 | |||
XM_011534369.1 | 348 | UTR 5 | XP_011532671.1 | |||
XM_011534370.1 | 348 | UTR 5 | XP_011532672.1 | |||
XM_011534372.1 | 348 | UTR 5 | XP_011532674.1 | |||
XM_017007731.1 | 348 | Intron | XP_016863220.1 |