Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGTCGTGTTGTGACCTGGCTGCGG[C/T]GGGACAGGTGGTGACCGCCAGGAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 613535 MIM: 608458 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA0319L 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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KIAA0319L - KIAA0319 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024874.4 | 153 | Intron | NP_079150.3 | |||
XM_006710907.1 | 153 | Intron | XP_006710970.1 | |||
XM_006710909.1 | 153 | Intron | XP_006710972.1 | |||
XM_006710910.1 | 153 | Intron | XP_006710973.1 | |||
XM_011542179.2 | 153 | Intron | XP_011540481.1 | |||
XM_011542180.1 | 153 | Intron | XP_011540482.1 | |||
XM_017002366.1 | 153 | Intron | XP_016857855.1 | |||
XM_017002367.1 | 153 | Intron | XP_016857856.1 | |||
XM_017002368.1 | 153 | Intron | XP_016857857.1 | |||
XM_017002369.1 | 153 | Intron | XP_016857858.1 | |||
XM_017002370.1 | 153 | Intron | XP_016857859.1 | |||
XM_017002371.1 | 153 | Intron | XP_016857860.1 | |||
XM_017002372.1 | 153 | Intron | XP_016857861.1 | |||
XM_017002373.1 | 153 | Intron | XP_016857862.1 | |||
XM_017002374.1 | 153 | Intron | XP_016857863.1 | |||
XM_017002375.1 | 153 | Intron | XP_016857864.1 | |||
XM_017002376.1 | 153 | Intron | XP_016857865.1 | |||
XM_017002377.1 | 153 | Intron | XP_016857866.1 | |||
XM_017002378.1 | 153 | Intron | XP_016857867.1 |
NCDN - neurochondrin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014839.1 | 153 | Missense Mutation | GCG,GTG | A,V 9 | NP_001014839.1 | |
NM_001014841.1 | 153 | Intron | NP_001014841.1 | |||
NM_014284.2 | 153 | Missense Mutation | GCG,GTG | A,V 9 | NP_055099.1 |