Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGATGAGGTCTTGGTTTCTGCGAAT[G/T]AAGGACTGGGGTTCATGCCCCCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605942 MIM: 604714 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DSE PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
DSE - dermatan sulfate epimerase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080976.2 | 1385 | Intron | NP_001074445.1 | |||
NM_001322937.1 | 1385 | Intron | NP_001309866.1 | |||
NM_001322938.1 | 1385 | Intron | NP_001309867.1 | |||
NM_001322939.1 | 1385 | Intron | NP_001309868.1 | |||
NM_001322940.1 | 1385 | Intron | NP_001309869.1 | |||
NM_001322941.1 | 1385 | Intron | NP_001309870.1 | |||
NM_001322943.1 | 1385 | Intron | NP_001309872.1 | |||
NM_001322944.1 | 1385 | Intron | NP_001309873.1 | |||
NM_013352.3 | 1385 | Intron | NP_037484.1 | |||
XM_017010795.1 | 1385 | Intron | XP_016866284.1 | |||
XM_017010796.1 | 1385 | Intron | XP_016866285.1 | |||
XM_017010797.1 | 1385 | Intron | XP_016866286.1 |
TSPYL1 - TSPY like 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003309.3 | 1385 | Missense Mutation | TTA,TTC | L,F 366 | NP_003300.1 |