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CTAGCCGGACATCATGAGTGGCTGT[C/G]GGGTATTCATCGGGAGACTAAATCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 182396 MIM: 600914 | ||||||||||||||||||||
Literature Links: |
LOC100289511 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 |
LOC100289511 - uncharacterized LOC100289511 | ||||||
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There are no transcripts associated with this gene. |
SLC10A1 - solute carrier family 10 member 1 | ||||||
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There are no transcripts associated with this gene. |
SRSF5 - serine and arginine rich splicing factor 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039465.1 | 193 | Missense Mutation | CGG,GGG | R,G 5 | NP_001034554.1 | |
NM_001320214.1 | 193 | Missense Mutation | CGG,GGG | R,G 5 | NP_001307143.1 | |
NM_006925.4 | 193 | Missense Mutation | CGG,GGG | R,G 5 | NP_008856.2 | |
XM_005267999.1 | 193 | Missense Mutation | CGG,GGG | R,G 5 | XP_005268056.1 | |
XM_005268000.1 | 193 | Missense Mutation | CGG,GGG | R,G 5 | XP_005268057.1 | |
XM_011537077.2 | 193 | Missense Mutation | CGG,GGG | R,G 5 | XP_011535379.1 | |
XM_017021593.1 | 193 | Missense Mutation | CGG,GGG | R,G 5 | XP_016877082.1 | |
XM_017021594.1 | 193 | Intron | XP_016877083.1 |