Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCCTGTCTACCATGAAATCAATGG[C/T]ATCAGCCATCATAGGGTCCACCGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608181 | ||||||||||||||||||||
Literature Links: |
SPG21 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 |
SPG21 - spastic paraplegia 21 (autosomal recessive, Mast syndrome) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127889.4 | 763 | Missense Mutation | ACC,GCC | T,A 180 | NP_001121361.1 | |
NM_001127890.4 | 763 | Missense Mutation | ACC,GCC | T,A 153 | NP_001121362.1 | |
NM_016630.6 | 763 | Missense Mutation | ACC,GCC | T,A 180 | NP_057714.1 | |
XM_005254437.4 | 763 | Missense Mutation | ACC,GCC | T,A 180 | XP_005254494.1 | |
XM_017022297.1 | 763 | Missense Mutation | ACC,GCC | T,A 180 | XP_016877786.1 | |
XM_017022298.1 | 763 | Missense Mutation | ACC,GCC | T,A 180 | XP_016877787.1 |