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CATCAAGGGAGGCGATCTCCTGCTG[A/T]TTGGTGGTAGAGGCCAGAAAATTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601681 MIM: 601736 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FTSJ3 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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FTSJ3 - FtsJ homolog 3 | ||||||
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There are no transcripts associated with this gene. |
PSMC5 - proteasome 26S subunit, ATPase 5 | ||||||
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There are no transcripts associated with this gene. |
SMARCD2 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098426.1 | 1151 | Missense Mutation | AAA,AAT | K,N 429 | NP_001091896.1 | |
XM_005257604.2 | 1151 | Missense Mutation | AAA,AAT | K,N 354 | XP_005257661.2 | |
XM_017024967.1 | 1151 | Missense Mutation | AAA,AAT | K,N 381 | XP_016880456.1 |