Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGTACGACTCTGGCCATGGGGAACA[G/A]CCACTGTGTCCCTCAGGCCCCCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
26 submissions
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Phenotype: |
MIM: 610770 MIM: 615921 | ||||||||||||||||||||
Literature Links: |
KLHL17 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 |
KLHL17 - kelch like family member 17 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_198317.2 | 723 | Intron | NP_938073.1 | |||
XM_006710600.3 | 723 | Intron | XP_006710663.1 | |||
XM_006710601.3 | 723 | Intron | XP_006710664.1 |
NOC2L - NOC2 like nucleolar associated transcriptional repressor | ||||||
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There are no transcripts associated with this gene. |
PERM1 - PPARGC1 and ESRR induced regulator, muscle 1 | ||||||
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There are no transcripts associated with this gene. |
PLEKHN1 - pleckstrin homology domain containing N1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160184.1 | 723 | Missense Mutation | AAC,AGC | N,S 4 | NP_001153656.1 | |
NM_032129.2 | 723 | Missense Mutation | AAC,AGC | N,S 4 | NP_115505.2 | |
XM_006710944.3 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_006711007.2 | |
XM_011542248.2 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_011540550.2 | |
XM_017002474.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857963.1 | |
XM_017002475.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857964.1 | |
XM_017002476.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857965.1 | |
XM_017002477.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857966.1 | |
XM_017002478.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857967.1 | |
XM_017002479.1 | 723 | Missense Mutation | AAC,AGC | N,S 112 | XP_016857968.1 |