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GTTTTACAAGGGGGACAAAGACAAT[A/G]AGTATGTTCCCTACTCGGAGAGCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615003 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DDHD2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DDHD2 - DDHD domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164232.1 | 895 | Missense Mutation | AAG,GAG | K,E 124 | NP_001157704.1 | |
NM_001164234.1 | 895 | Missense Mutation | AAG,GAG | K,E 124 | NP_001157706.1 | |
NM_015214.2 | 895 | Missense Mutation | AAG,GAG | K,E 124 | NP_056029.2 | |
XM_005273454.2 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_005273511.1 | |
XM_005273455.3 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_005273512.1 | |
XM_005273456.3 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_005273513.1 | |
XM_011544456.1 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_011542758.1 | |
XM_017013252.1 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_016868741.1 | |
XM_017013253.1 | 895 | Missense Mutation | AAG,GAG | K,E 124 | XP_016868742.1 | |
XM_017013254.1 | 895 | UTR 5 | XP_016868743.1 | |||
XM_017013255.1 | 895 | UTR 5 | XP_016868744.1 | |||
XM_017013256.1 | 895 | UTR 5 | XP_016868745.1 |