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Search Thermo Fisher Scientific
TACTTACTCCATCCTGGCCTCCAGC[G/T]GCTGAACCAATTGTTTGTCCACGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614661 MIM: 610844 | ||||||||||||||||||||
Literature Links: |
PATL2 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 |
PATL2 - PAT1 homolog 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145112.1 | 2120 | Missense Mutation | CAG,CCG | Q,P 532 | NP_001138584.1 | |
XM_011521336.2 | 2120 | Silent Mutation | GCA,GCC | A,A 537 | XP_011519638.2 | |
XM_011521337.2 | 2120 | Silent Mutation | GCA,GCC | A,A 534 | XP_011519639.2 | |
XM_011521338.2 | 2120 | Silent Mutation | GCA,GCC | A,A 499 | XP_011519640.1 | |
XM_011521339.2 | 2120 | Silent Mutation | GCA,GCC | A,A 499 | XP_011519641.1 | |
XM_011521340.2 | 2120 | Silent Mutation | GCA,GCC | A,A 499 | XP_011519642.1 | |
XM_011521341.1 | 2120 | Silent Mutation | GCA,GCC | A,A 499 | XP_011519643.1 | |
XM_011521342.2 | 2120 | Silent Mutation | GCA,GCC | A,A 425 | XP_011519644.1 | |
XM_011521343.2 | 2120 | Silent Mutation | GCA,GCC | A,A 415 | XP_011519645.1 | |
XM_011521344.2 | 2120 | Silent Mutation | GCA,GCC | A,A 415 | XP_011519646.1 | |
XM_011521345.2 | 2120 | Silent Mutation | GCA,GCC | A,A 412 | XP_011519647.1 | |
XM_011521346.2 | 2120 | Silent Mutation | GCA,GCC | A,A 392 | XP_011519648.2 | |
XM_011521347.1 | 2120 | Silent Mutation | GCA,GCC | A,A 310 | XP_011519649.1 | |
XM_011521348.2 | 2120 | Missense Mutation | CAG,CCG | Q,P 343 | XP_011519650.1 | |
XM_017022000.1 | 2120 | Missense Mutation | CAG,CCG | Q,P 570 | XP_016877489.1 | |
XM_017022001.1 | 2120 | Silent Mutation | GCA,GCC | A,A 412 | XP_016877490.1 |
SPG11 - spastic paraplegia 11 (autosomal recessive) | ||||||
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There are no transcripts associated with this gene. |