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Search Thermo Fisher Scientific
GCTGGAGCCCCACCCCGTGATACCT[C/T]GGTAAGCAGCACATCTTATTTGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114090 MIM: 606832 | ||||||||||||||||||||
Literature Links: |
CAST 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 |
CAST - calpastatin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190442.1 | 1768 | Missense Mutation | TCG,TTG | S,L 548 | NP_001177371.1 | |
XM_006714696.3 | 1768 | Missense Mutation | TCG,TTG | S,L 644 | XP_006714759.1 | |
XM_006714697.3 | 1768 | Missense Mutation | TCG,TTG | S,L 644 | XP_006714760.1 | |
XM_006714698.3 | 1768 | Missense Mutation | TCG,TTG | S,L 631 | XP_006714761.1 | |
XM_006714699.3 | 1768 | Missense Mutation | TCG,TTG | S,L 629 | XP_006714762.1 | |
XM_006714700.3 | 1768 | Missense Mutation | TCG,TTG | S,L 625 | XP_006714763.1 | |
XM_006714701.3 | 1768 | Missense Mutation | TCG,TTG | S,L 622 | XP_006714764.1 | |
XM_006714702.3 | 1768 | Missense Mutation | TCG,TTG | S,L 610 | XP_006714765.1 | |
XM_006714703.3 | 1768 | Missense Mutation | TCG,TTG | S,L 609 | XP_006714766.1 | |
XM_006714704.3 | 1768 | Missense Mutation | TCG,TTG | S,L 607 | XP_006714767.1 | |
XM_006714705.3 | 1768 | Missense Mutation | TCG,TTG | S,L 603 | XP_006714768.1 | |
XM_006714706.3 | 1768 | Missense Mutation | TCG,TTG | S,L 588 | XP_006714769.1 | |
XM_006714707.3 | 1768 | Missense Mutation | TCG,TTG | S,L 561 | XP_006714770.1 | |
XM_006714708.3 | 1768 | Missense Mutation | TCG,TTG | S,L 548 | XP_006714771.1 | |
XM_006714709.3 | 1768 | Missense Mutation | TCG,TTG | S,L 542 | XP_006714772.1 | |
XM_006714710.3 | 1768 | Missense Mutation | TCG,TTG | S,L 526 | XP_006714773.1 | |
XM_006714711.3 | 1768 | Missense Mutation | TCG,TTG | S,L 520 | XP_006714774.1 | |
XM_006714712.3 | 1768 | Missense Mutation | TCG,TTG | S,L 507 | XP_006714775.1 | |
XM_006714713.3 | 1768 | Missense Mutation | TCG,TTG | S,L 284 | XP_006714776.1 | |
XM_006714714.3 | 1768 | Missense Mutation | TCG,TTG | S,L 284 | XP_006714777.1 | |
XM_006714715.3 | 1768 | Missense Mutation | TCG,TTG | S,L 276 | XP_006714778.1 | |
XM_011543654.2 | 1768 | Missense Mutation | TCG,TTG | S,L 617 | XP_011541956.1 | |
XM_011543655.2 | 1768 | Missense Mutation | TCG,TTG | S,L 616 | XP_011541957.1 | |
XM_011543656.2 | 1768 | Missense Mutation | TCG,TTG | S,L 595 | XP_011541958.1 | |
XM_011543657.2 | 1768 | Missense Mutation | TCG,TTG | S,L 580 | XP_011541959.1 | |
XM_011543658.2 | 1768 | Missense Mutation | TCG,TTG | S,L 512 | XP_011541960.1 | |
XM_017009911.1 | 1768 | Missense Mutation | TCG,TTG | S,L 631 | XP_016865400.1 | |
XM_017009912.1 | 1768 | Missense Mutation | TCG,TTG | S,L 631 | XP_016865401.1 | |
XM_017009913.1 | 1768 | Missense Mutation | TCG,TTG | S,L 625 | XP_016865402.1 | |
XM_017009914.1 | 1768 | Missense Mutation | TCG,TTG | S,L 625 | XP_016865403.1 | |
XM_017009915.1 | 1768 | Missense Mutation | TCG,TTG | S,L 622 | XP_016865404.1 | |
XM_017009916.1 | 1768 | Missense Mutation | TCG,TTG | S,L 622 | XP_016865405.1 | |
XM_017009917.1 | 1768 | Missense Mutation | TCG,TTG | S,L 616 | XP_016865406.1 | |
XM_017009918.1 | 1768 | Missense Mutation | TCG,TTG | S,L 612 | XP_016865407.1 | |
XM_017009919.1 | 1768 | Missense Mutation | TCG,TTG | S,L 603 | XP_016865408.1 | |
XM_017009920.1 | 1768 | Missense Mutation | TCG,TTG | S,L 594 | XP_016865409.1 | |
XM_017009921.1 | 1768 | Missense Mutation | TCG,TTG | S,L 594 | XP_016865410.1 | |
XM_017009922.1 | 1768 | Missense Mutation | TCG,TTG | S,L 590 | XP_016865411.1 | |
XM_017009923.1 | 1768 | Missense Mutation | TCG,TTG | S,L 590 | XP_016865412.1 | |
XM_017009924.1 | 1768 | Missense Mutation | TCG,TTG | S,L 584 | XP_016865413.1 | |
XM_017009925.1 | 1768 | Missense Mutation | TCG,TTG | S,L 575 | XP_016865414.1 | |
XM_017009926.1 | 1768 | Missense Mutation | TCG,TTG | S,L 575 | XP_016865415.1 | |
XM_017009927.1 | 1768 | Missense Mutation | TCG,TTG | S,L 561 | XP_016865416.1 | |
XM_017009928.1 | 1768 | Missense Mutation | TCG,TTG | S,L 548 | XP_016865417.1 | |
XM_017009929.1 | 1768 | Missense Mutation | TCG,TTG | S,L 539 | XP_016865418.1 | |
XM_017009930.1 | 1768 | Missense Mutation | TCG,TTG | S,L 529 | XP_016865419.1 | |
XM_017009931.1 | 1768 | Missense Mutation | TCG,TTG | S,L 526 | XP_016865420.1 | |
XM_017009932.1 | 1768 | Missense Mutation | TCG,TTG | S,L 507 | XP_016865421.1 |
ERAP1 - endoplasmic reticulum aminopeptidase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040458.1 | 1768 | Intron | NP_001035548.1 | |||
NM_001198541.1 | 1768 | Intron | NP_001185470.1 | |||
NM_016442.3 | 1768 | UTR 3 | NP_057526.3 | |||
XM_005272015.4 | 1768 | Intron | XP_005272072.1 | |||
XM_005272016.4 | 1768 | Intron | XP_005272073.1 | |||
XM_011543480.2 | 1768 | Intron | XP_011541782.1 | |||
XM_011543481.2 | 1768 | Intron | XP_011541783.1 | |||
XM_011543484.2 | 1768 | Intron | XP_011541786.1 | |||
XM_011543485.2 | 1768 | Intron | XP_011541787.1 | |||
XM_011543486.2 | 1768 | Intron | XP_011541788.1 | |||
XM_017009580.1 | 1768 | Intron | XP_016865069.1 | |||
XM_017009581.1 | 1768 | Intron | XP_016865070.1 | |||
XM_017009582.1 | 1768 | UTR 3 | XP_016865071.1 | |||
XM_017009583.1 | 1768 | Intron | XP_016865072.1 |