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TGAGGAGCAAGATGACAAAAATGAA[A/G]AGTGGTATCGATTGCAAGAAAAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 600814 | ||||||||||||||||||||
Literature Links: |
ANKRD49 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 |
ANKRD49 - ankyrin repeat domain 49 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017704.2 | 365 | Missense Mutation | AAG,GAG | K,E 61 | NP_060174.2 | |
XM_017017941.1 | 365 | Missense Mutation | AAG,GAG | K,E 61 | XP_016873430.1 |
MRE11A - MRE11 homolog A, double strand break repair nuclease | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005590.3 | 365 | Intron | NP_005581.2 | |||
NM_005591.3 | 365 | Intron | NP_005582.1 | |||
XM_005274008.3 | 365 | Intron | XP_005274065.1 | |||
XM_006718842.3 | 365 | Intron | XP_006718905.1 | |||
XM_011542837.2 | 365 | Intron | XP_011541139.1 | |||
XM_017017772.1 | 365 | Intron | XP_016873261.1 | |||
XM_017017773.1 | 365 | Intron | XP_016873262.1 |