Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAACAGAGCAGAAGTTGTTATTTTC[C/T]TGGTGACCTGAAAAGTAAAAGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 400009 | ||||||||||||||||||||
Literature Links: |
UTY 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 |
UTY - ubiquitously transcribed tetratricopeptide repeat containing, Y-linked | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258249.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1191 | NP_001245178.1 | |
NM_001258250.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 954 | NP_001245179.1 | |
NM_001258251.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1110 | NP_001245180.1 | |
NM_001258252.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1139 | NP_001245181.1 | |
NM_001258253.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1110 | NP_001245182.1 | |
NM_001258254.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1015 | NP_001245183.1 | |
NM_001258255.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1015 | NP_001245184.1 | |
NM_001258256.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1139 | NP_001245185.1 | |
NM_001258257.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 970 | NP_001245186.1 | |
NM_001258258.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1146 | NP_001245187.1 | |
NM_001258259.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1078 | NP_001245188.1 | |
NM_001258260.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1124 | NP_001245189.1 | |
NM_001258261.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1136 | NP_001245190.1 | |
NM_001258262.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1067 | NP_001245191.1 | |
NM_001258263.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | NP_001245192.1 | |
NM_001258264.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1123 | NP_001245193.1 | |
NM_001258265.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1011 | NP_001245194.1 | |
NM_001258266.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1114 | NP_001245195.1 | |
NM_001258267.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | NP_001245196.1 | |
NM_001258268.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1015 | NP_001245197.1 | |
NM_001258269.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1045 | NP_001245198.1 | |
NM_001258270.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 970 | NP_001245199.1 | |
NM_007125.4 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | NP_009056.3 | |
NM_182659.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | NP_872600.1 | |
NM_182660.1 | 4443 | Intron | NP_872601.1 | |||
XM_005262518.3 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1139 | XP_005262575.1 | |
XM_006724875.3 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1191 | XP_006724938.1 | |
XM_011531441.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529743.1 | |
XM_011531442.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1191 | XP_011529744.1 | |
XM_011531443.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1185 | XP_011529745.1 | |
XM_011531445.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1162 | XP_011529747.1 | |
XM_011531446.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1155 | XP_011529748.1 | |
XM_011531447.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1146 | XP_011529749.1 | |
XM_011531448.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1140 | XP_011529750.1 | |
XM_011531449.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1139 | XP_011529751.1 | |
XM_011531450.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1124 | XP_011529752.1 | |
XM_011531451.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1110 | XP_011529753.1 | |
XM_011531452.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | XP_011529754.1 | |
XM_011531453.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529755.1 | |
XM_011531454.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529756.1 | |
XM_011531455.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529757.1 | |
XM_011531457.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529759.1 | |
XM_011531458.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1169 | XP_011529760.1 | |
XM_011531459.2 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_011529761.1 | |
XM_011531460.2 | 4443 | Intron | XP_011529762.1 | |||
XM_011531461.2 | 4443 | Intron | XP_011529763.1 | |||
XM_011531462.2 | 4443 | Intron | XP_011529764.1 | |||
XM_011531463.2 | 4443 | Intron | XP_011529765.1 | |||
XM_011531464.2 | 4443 | Intron | XP_011529766.1 | |||
XM_011531465.2 | 4443 | Intron | XP_011529767.1 | |||
XM_017030066.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1169 | XP_016885555.1 | |
XM_017030067.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1139 | XP_016885556.1 | |
XM_017030068.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | XP_016885557.1 | |
XM_017030069.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1094 | XP_016885558.1 | |
XM_017030070.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1207 | XP_016885559.1 | |
XM_017030071.1 | 4443 | Intron | XP_016885560.1 | |||
XM_017030072.1 | 4443 | Intron | XP_016885561.1 | |||
XM_017030073.1 | 4443 | Intron | XP_016885562.1 | |||
XM_017030074.1 | 4443 | Silent Mutation | CAA,CAG | Q,Q 1185 | XP_016885563.1 |