Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACGCCGCTGGCCTCCCTAGCCCCTC[A/G]CCTGGCCTCCATCCTGACCTCGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609855 MIM: 109684 MIM: 602976 MIM: 608665 | ||||||||||||||||||||
Literature Links: |
COASY 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 |
COASY - Coenzyme A synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042529.2 | 415 | Missense Mutation | CAC,CGC | H,R 21 | NP_001035994.1 | |
NM_001042532.3 | 415 | Missense Mutation | CAC,CGC | H,R 50 | NP_001035997.2 | |
NM_025233.6 | 415 | Missense Mutation | CAC,CGC | H,R 21 | NP_079509.5 | |
XM_006722116.3 | 415 | Missense Mutation | CAC,CGC | H,R 50 | XP_006722179.1 | |
XM_011525300.1 | 415 | Missense Mutation | CAC,CGC | H,R 21 | XP_011523602.1 | |
XM_017025167.1 | 415 | Missense Mutation | CAC,CGC | H,R 21 | XP_016880656.1 | |
XM_017025168.1 | 415 | Intron | XP_016880657.1 |
HSD17B1 - hydroxysteroid 17-beta dehydrogenase 1 | ||||||
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There are no transcripts associated with this gene. |
MLX - MLX, MAX dimerization protein | ||||||
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There are no transcripts associated with this gene. |
PSMC3IP - PSMC3 interacting protein | ||||||
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There are no transcripts associated with this gene. |