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TGAGCACTCCAACTGGAGCCTCTTG[C/T]TCCTTCCCGACGACTGTAGTTTCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616447 | ||||||||||||||||||||
Literature Links: |
KIAA1429 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 |
KIAA1429 - KIAA1429 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015496.4 | 5015 | Missense Mutation | ACA,GCA | T,A 1722 | NP_056311.2 | |
NM_183009.2 | 5015 | Intron | NP_892121.1 | |||
XM_017013306.1 | 5015 | Missense Mutation | ACA,GCA | T,A 1387 | XP_016868795.1 | |
XM_017013307.1 | 5015 | Missense Mutation | ACA,GCA | T,A 1387 | XP_016868796.1 | |
XM_017013308.1 | 5015 | Missense Mutation | ACA,GCA | T,A 1387 | XP_016868797.1 |