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GCCGGATCCAGCTCCTGCTCCCTCC[A/G]TGACCGCAGCCTCAACGCGCGCCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606236 MIM: 602050 MIM: 615128 | ||||||||||||||||||||
Literature Links: |
ASPSCR1 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 |
ASPSCR1 - ASPSCR1, UBX domain containing tether for SLC2A4 | ||||||
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There are no transcripts associated with this gene. |
LRRC45 - leucine rich repeat containing 45 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144999.3 | 50 | Intron | NP_659436.1 |
RAC3 - ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) | ||||||
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There are no transcripts associated with this gene. |
STRA13 - stimulated by retinoic acid 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271006.1 | 50 | Missense Mutation | NP_001257935.1 | |||
NM_001271007.1 | 50 | Missense Mutation | NP_001257936.1 | |||
NM_144998.3 | 50 | Missense Mutation | NP_659435.2 | |||
XM_005256339.2 | 50 | Missense Mutation | XP_005256396.1 | |||
XM_017024326.1 | 50 | Missense Mutation | XP_016879815.1 | |||
XM_017024327.1 | 50 | Missense Mutation | XP_016879816.1 | |||
XM_017024328.1 | 50 | Missense Mutation | XP_016879817.1 | |||
XM_017024329.1 | 50 | Missense Mutation | XP_016879818.1 |