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TCATCATCTAGGTCAGGTCCCCATG[A/G]CCCAGGCACGAGCGGGGGTCCAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615741 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA0141 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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KIAA0141 - KIAA0141 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142603.2 | 318 | Missense Mutation | GAC,GGC | D,G 54 | NP_001136075.1 | |
NM_014773.4 | 318 | Missense Mutation | GAC,GGC | D,G 54 | NP_055588.3 | |
XM_005268547.3 | 318 | Missense Mutation | GAC,GGC | D,G 54 | XP_005268604.1 | |
XM_005268548.3 | 318 | Missense Mutation | GAC,GGC | D,G 54 | XP_005268605.1 | |
XM_005268552.2 | 318 | Missense Mutation | GAC,GGC | D,G 54 | XP_005268609.1 | |
XM_006714812.3 | 318 | Intron | XP_006714875.1 | |||
XM_011537715.1 | 318 | Missense Mutation | GAC,GGC | D,G 54 | XP_011536017.1 | |
XM_011537716.2 | 318 | Missense Mutation | GAC,GGC | D,G 54 | XP_011536018.1 |