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GGCACTGGGCATGGCCCTCCTGCAG[C/G]ATATTCAGCTTTGACTTGGCCAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613383 MIM: 603692 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANKRD54 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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ANKRD54 - ankyrin repeat domain 54 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138797.2 | 1236 | Missense Mutation | ATC,ATG | I,M 222 | NP_620152.1 | |
XM_006724136.1 | 1236 | Missense Mutation | ATC,ATG | I,M 129 | XP_006724199.1 | |
XM_006724137.1 | 1236 | Missense Mutation | ATC,ATG | I,M 116 | XP_006724200.1 | |
XM_011529877.2 | 1236 | Missense Mutation | ATC,ATG | I,M 266 | XP_011528179.1 | |
XM_011529878.2 | 1236 | Missense Mutation | ATC,ATG | I,M 201 | XP_011528180.1 | |
XM_011529879.2 | 1236 | Missense Mutation | ATC,ATG | I,M 124 | XP_011528181.1 | |
XM_011529880.2 | 1236 | Missense Mutation | ATC,ATG | I,M 116 | XP_011528182.1 | |
XM_011529882.2 | 1236 | Missense Mutation | ATC,ATG | I,M 102 | XP_011528184.1 | |
XM_011529883.2 | 1236 | Missense Mutation | ATC,ATG | I,M 89 | XP_011528185.1 | |
XM_011529884.2 | 1236 | Missense Mutation | ATC,ATG | I,M 89 | XP_011528186.1 | |
XM_017028590.1 | 1236 | Missense Mutation | ATC,ATG | I,M 157 | XP_016884079.1 | |
XM_017028591.1 | 1236 | Missense Mutation | ATC,ATG | I,M 102 | XP_016884080.1 | |
XM_017028593.1 | 1236 | Missense Mutation | ATC,ATG | I,M 102 | XP_016884082.1 |
GALR3 - galanin receptor 3 | ||||||
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There are no transcripts associated with this gene. |