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TGGAAGGATGAGTCATGGCTTGCTG[A/G]GTACCCTGGTAGGAAGGAGAGGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 616758 MIM: 610325 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KDF1 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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KDF1 - keratinocyte differentiation factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152365.2 | 1213 | Missense Mutation | CCA,TCA | P,S 374 | NP_689578.2 | |
XM_005245735.2 | 1213 | Missense Mutation | CCA,TCA | P,S 374 | XP_005245792.1 | |
XM_011540622.1 | 1213 | Missense Mutation | CCA,TCA | P,S 374 | XP_011538924.1 |
NUDC - nuclear distribution C, dynein complex regulator | ||||||
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There are no transcripts associated with this gene. |