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CTAGGGGCCCAGCACAGCTTCATGA[A/G]CTCGTGAACCTGAGGGGCGGGGGAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 146738 MIM: 600173 | ||||||||||||||||||||
Literature Links: |
INSL3 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 |
INSL3 - insulin like 3 | ||||||
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There are no transcripts associated with this gene. |
JAK3 - Janus kinase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000215.3 | 3317 | Missense Mutation | CTC,TTC | L,F 1073 | NP_000206.2 | |
XM_005259896.3 | 3317 | Missense Mutation | CTC,TTC | L,F 1116 | XP_005259953.1 | |
XM_011527990.1 | 3317 | Intron | XP_011526292.1 | |||
XM_011527991.2 | 3317 | Intron | XP_011526293.1 |