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- SNP ID:
- rs112954947
- Gene
-
CASD1SGCE - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.7: 94585327 - 94585327 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
TGTCAAAAATGCTTTAAGTACAAAA[A/G]AATACATTAGTAAAATGAAAGTTAT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 611686
MIM: 604149
|
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Literature Links: |
CASD1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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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
|
| CASD1 - CAS1 domain containing 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_022900.4 | 1653 | Intron | NP_075051.4 | |||
| XM_006716092.3 | 1653 | Intron | XP_006716155.1 | |||
| XM_006716093.3 | 1653 | Intron | XP_006716156.2 | |||
| XM_011516495.2 | 1653 | Intron | XP_011514797.1 | |||
| XM_017012546.1 | 1653 | Intron | XP_016868035.1 | |||
| XM_017012547.1 | 1653 | Intron | XP_016868036.1 | |||
| SGCE - sarcoglycan epsilon | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001099400.1 | 1653 | UTR 3 | NP_001092870.1 | |||
| NM_001099401.1 | 1653 | UTR 3 | NP_001092871.1 | |||
| NM_001301139.1 | 1653 | UTR 3 | NP_001288068.1 | |||
| NM_003919.2 | 1653 | UTR 3 | NP_003910.1 | |||
| XM_005250675.4 | 1653 | UTR 3 | XP_005250732.1 | |||
| XM_005250677.4 | 1653 | UTR 3 | XP_005250734.1 | |||
| XM_011516663.2 | 1653 | Intron | XP_011514965.1 | |||
| XM_011516664.2 | 1653 | Intron | XP_011514966.1 | |||
| XM_011516665.2 | 1653 | Intron | XP_011514967.1 | |||
| XM_011516666.2 | 1653 | Intron | XP_011514968.1 | |||
| XM_011516667.2 | 1653 | Intron | XP_011514969.1 | |||
| XM_011516669.2 | 1653 | Intron | XP_011514971.1 | |||
| XM_017012763.1 | 1653 | Intron | XP_016868252.1 | |||
| XM_017012764.1 | 1653 | UTR 3 | XP_016868253.1 | |||
| XM_017012765.1 | 1653 | UTR 3 | XP_016868254.1 | |||
| XM_017012766.1 | 1653 | Intron | XP_016868255.1 | |||
| XM_017012767.1 | 1653 | Intron | XP_016868256.1 | |||
| XM_017012768.1 | 1653 | UTR 3 | XP_016868257.1 | |||
| XM_017012769.1 | 1653 | UTR 3 | XP_016868258.1 | |||
| XM_017012770.1 | 1653 | Intron | XP_016868259.1 | |||
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