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Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615317 MIM: 601015 MIM: 609999 | |||||||||||||||||||||||||||||
Literature Links: |
ISCA2 PubMed Links | |||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
ISCA2 - iron-sulfur cluster assembly 2 | ||||||
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There are no transcripts associated with this gene. |
MIR4709 - microRNA 4709 | ||||||
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There are no transcripts associated with this gene. |
NPC2 - NPC intracellular cholesterol transporter 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006432.3 | 364 | Missense Mutation | CCC,CTC | P,L 86 | NP_006423.1 | |
XM_017020930.1 | 364 | Missense Mutation | CCC,CTC | P,L 86 | XP_016876419.1 |
SYNDIG1L - synapse differentiation inducing 1 like | ||||||
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There are no transcripts associated with this gene. |