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ACTGGTGTTGTGATCGGAACGTGTC[A/G]ATCCCCTCTTCTCATCACTGCTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 615713 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ZMYND8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
ZMYND8 - zinc finger MYND-type containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281769.1 | 4090 | Intron | NP_001268698.1 | |||
NM_001281771.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1028 | NP_001268700.1 | |
NM_001281772.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1160 | NP_001268701.1 | |
NM_001281773.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | NP_001268702.1 | |
NM_001281774.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1142 | NP_001268703.1 | |
NM_001281775.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1208 | NP_001268704.1 | |
NM_001281776.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1081 | NP_001268705.1 | |
NM_001281777.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1137 | NP_001268706.1 | |
NM_001281778.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1155 | NP_001268707.1 | |
NM_001281779.2 | 4090 | Missense Mutation | TCG,TTG | S,L 894 | NP_001268708.1 | |
NM_001281780.2 | 4090 | Missense Mutation | TCG,TTG | S,L 866 | NP_001268709.1 | |
NM_001281781.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1062 | NP_001268710.1 | |
NM_001281782.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1110 | NP_001268711.1 | |
NM_001281783.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1180 | NP_001268712.1 | |
NM_001281784.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1108 | NP_001268713.1 | |
NM_012408.5 | 4090 | Missense Mutation | TCG,TTG | S,L 1134 | NP_036540.3 | |
NM_183047.3 | 4090 | Missense Mutation | TCG,TTG | S,L 1162 | NP_898868.1 | |
NM_183048.3 | 4090 | Missense Mutation | TCG,TTG | S,L 1109 | NP_898869.1 | |
XM_005260356.4 | 4090 | Missense Mutation | TCG,TTG | S,L 1215 | XP_005260413.1 | |
XM_005260358.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1207 | XP_005260415.1 | |
XM_005260360.4 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | XP_005260417.1 | |
XM_005260362.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1183 | XP_005260419.1 | |
XM_005260364.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1163 | XP_005260421.1 | |
XM_005260366.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1160 | XP_005260423.1 | |
XM_006723760.3 | 4090 | Missense Mutation | TCG,TTG | S,L 1207 | XP_006723823.1 | |
XM_006723762.3 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | XP_006723825.1 | |
XM_006723763.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1182 | XP_006723826.1 | |
XM_006723766.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1163 | XP_006723829.1 | |
XM_011528749.2 | 4090 | Missense Mutation | TCG,TTG | S,L 1213 | XP_011527051.1 | |
XM_011528751.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | XP_011527053.1 | |
XM_011528752.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1141 | XP_011527054.1 | |
XM_011528753.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1163 | XP_011527055.1 | |
XM_011528754.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1163 | XP_011527056.1 | |
XM_017027760.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1158 | XP_016883249.1 | |
XM_017027761.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | XP_016883250.1 | |
XM_017027762.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1188 | XP_016883251.1 | |
XM_017027763.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1179 | XP_016883252.1 | |
XM_017027764.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1138 | XP_016883253.1 | |
XM_017027765.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1133 | XP_016883254.1 | |
XM_017027766.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1163 | XP_016883255.1 | |
XM_017027767.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1160 | XP_016883256.1 | |
XM_017027768.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1160 | XP_016883257.1 | |
XM_017027769.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1113 | XP_016883258.1 | |
XM_017027770.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1135 | XP_016883259.1 | |
XM_017027771.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1135 | XP_016883260.1 | |
XM_017027772.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1135 | XP_016883261.1 | |
XM_017027773.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1087 | XP_016883262.1 | |
XM_017027774.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1120 | XP_016883263.1 | |
XM_017027775.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1117 | XP_016883264.1 | |
XM_017027776.1 | 4090 | Nonsense Mutation | CGA,TGA | R,* 1066 | XP_016883265.1 | |
XM_017027777.1 | 4090 | Missense Mutation | TCG,TTG | S,L 1092 | XP_016883266.1 | |
XM_017027778.1 | 4090 | Intron | XP_016883267.1 | |||
XM_017027779.1 | 4090 | Missense Mutation | TCG,TTG | S,L 891 | XP_016883268.1 | |
XM_017027780.1 | 4090 | Missense Mutation | TCG,TTG | S,L 883 | XP_016883269.1 |