Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CATCCCCCAGGTCACAGCCTACAAT[C/T]GGGACAGCTTTGATACCACTCGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 608101 MIM: 600119 | ||||||||||||||||||||
Literature Links: |
HILS1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
HILS1 - histone linker H1 domain, spermatid-specific 1 (pseudogene) | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
SGCA - sarcoglycan alpha | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000023.3 | 852 | Missense Mutation | CGG,TGG | R,W 110 | NP_000014.1 | |
NM_001135697.2 | 852 | Missense Mutation | CGG,TGG | R,W 110 | NP_001129169.1 | |
XM_011525120.2 | 852 | Missense Mutation | CGG,TGG | R,W 164 | XP_011523422.2 | |
XM_011525121.2 | 852 | Missense Mutation | CGG,TGG | R,W 164 | XP_011523423.2 | |
XM_011525122.2 | 852 | Missense Mutation | CGG,TGG | R,W 164 | XP_011523424.2 | |
XM_011525123.2 | 852 | Missense Mutation | CGG,TGG | R,W 164 | XP_011523425.2 | |
XM_011525124.2 | 852 | Missense Mutation | CGG,TGG | R,W 8 | XP_011523426.1 | |
XM_017024950.1 | 852 | Missense Mutation | CGG,TGG | R,W 164 | XP_016880439.1 |