Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTCTGGGGTGTTTAAGCTCCTCCA[C/G]CTCCAAATTGATCATGTACCTCAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605942 | ||||||||||||||||||||
Literature Links: |
DSE 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 |
DSE - dermatan sulfate epimerase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080976.2 | 940 | Intron | NP_001074445.1 | |||
NM_001322937.1 | 940 | Intron | NP_001309866.1 | |||
NM_001322938.1 | 940 | Intron | NP_001309867.1 | |||
NM_001322939.1 | 940 | Intron | NP_001309868.1 | |||
NM_001322940.1 | 940 | Intron | NP_001309869.1 | |||
NM_001322941.1 | 940 | Intron | NP_001309870.1 | |||
NM_001322943.1 | 940 | Intron | NP_001309872.1 | |||
NM_001322944.1 | 940 | Intron | NP_001309873.1 | |||
NM_013352.3 | 940 | Intron | NP_037484.1 | |||
XM_017010795.1 | 940 | Intron | XP_016866284.1 | |||
XM_017010796.1 | 940 | Intron | XP_016866285.1 | |||
XM_017010797.1 | 940 | Intron | XP_016866286.1 |
NT5DC1 - 5'-nucleotidase domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
TSPYL4 - TSPY like 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021648.4 | 940 | Missense Mutation | CTG,GTG | L,V 284 | NP_067680.3 |