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ACTTTTATCTGCCTAGAGAAGAACT[A/G]TGGATCTACAACATGGAGACTGGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611280 | ||||||||||||||||||||
Literature Links: |
KLHDC2 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 |
KLHDC2 - kelch domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014315.2 | 337 | Silent Mutation | CTA,CTG | L,L 68 | NP_055130.1 | |
XM_006720094.3 | 337 | Silent Mutation | CTA,CTG | L,L 68 | XP_006720157.1 | |
XM_011536610.1 | 337 | UTR 5 | XP_011534912.1 |