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GCCTGGCGCTGCTGCATCTCCTGCA[A/G]CTGGGTTACCTGTACAGGTGAGTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 601655 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EYA3 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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EYA3 - EYA transcriptional coactivator and phosphatase 3 | ||||||
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There are no transcripts associated with this gene. |
SMPDL3B - sphingomyelin phosphodiesterase acid like 3B | ||||||
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There are no transcripts associated with this gene. |
XKR8 - XK related 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018053.3 | 884 | Silent Mutation | CAA,CAG | Q,Q 92 | NP_060523.2 | |
XM_011541679.2 | 884 | Missense Mutation | AAC,AGC | N,S 56 | XP_011539981.1 | |
XM_011541680.2 | 884 | Missense Mutation | AAC,AGC | N,S 56 | XP_011539982.1 |