Product Details
- SNP ID
-
rs201324973
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:96762371 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTGGAGCCCCACCCCGTGATACCT[C/T]GGTAAGCAGCACATCTTATTTGGGA
- Phenotype
-
MIM: 114090
MIM: 606832
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
CAST
PubMed Links
Gene Details
- Gene
- CAST
- Gene Name
- calpastatin
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001190442.1 |
1768 |
Missense Mutation |
TCG,TTG |
S548L |
NP_001177371.1 |
XM_006714696.3 |
1768 |
Missense Mutation |
TCG,TTG |
S644L |
XP_006714759.1 |
XM_006714697.3 |
1768 |
Missense Mutation |
TCG,TTG |
S644L |
XP_006714760.1 |
XM_006714698.3 |
1768 |
Missense Mutation |
TCG,TTG |
S631L |
XP_006714761.1 |
XM_006714699.3 |
1768 |
Missense Mutation |
TCG,TTG |
S629L |
XP_006714762.1 |
XM_006714700.3 |
1768 |
Missense Mutation |
TCG,TTG |
S625L |
XP_006714763.1 |
XM_006714701.3 |
1768 |
Missense Mutation |
TCG,TTG |
S622L |
XP_006714764.1 |
XM_006714702.3 |
1768 |
Missense Mutation |
TCG,TTG |
S610L |
XP_006714765.1 |
XM_006714703.3 |
1768 |
Missense Mutation |
TCG,TTG |
S609L |
XP_006714766.1 |
XM_006714704.3 |
1768 |
Missense Mutation |
TCG,TTG |
S607L |
XP_006714767.1 |
XM_006714705.3 |
1768 |
Missense Mutation |
TCG,TTG |
S603L |
XP_006714768.1 |
XM_006714706.3 |
1768 |
Missense Mutation |
TCG,TTG |
S588L |
XP_006714769.1 |
XM_006714707.3 |
1768 |
Missense Mutation |
TCG,TTG |
S561L |
XP_006714770.1 |
XM_006714708.3 |
1768 |
Missense Mutation |
TCG,TTG |
S548L |
XP_006714771.1 |
XM_006714709.3 |
1768 |
Missense Mutation |
TCG,TTG |
S542L |
XP_006714772.1 |
XM_006714710.3 |
1768 |
Missense Mutation |
TCG,TTG |
S526L |
XP_006714773.1 |
XM_006714711.3 |
1768 |
Missense Mutation |
TCG,TTG |
S520L |
XP_006714774.1 |
XM_006714712.3 |
1768 |
Missense Mutation |
TCG,TTG |
S507L |
XP_006714775.1 |
XM_006714713.3 |
1768 |
Missense Mutation |
TCG,TTG |
S284L |
XP_006714776.1 |
XM_006714714.3 |
1768 |
Missense Mutation |
TCG,TTG |
S284L |
XP_006714777.1 |
XM_006714715.3 |
1768 |
Missense Mutation |
TCG,TTG |
S276L |
XP_006714778.1 |
XM_011543654.2 |
1768 |
Missense Mutation |
TCG,TTG |
S617L |
XP_011541956.1 |
XM_011543655.2 |
1768 |
Missense Mutation |
TCG,TTG |
S616L |
XP_011541957.1 |
XM_011543656.2 |
1768 |
Missense Mutation |
TCG,TTG |
S595L |
XP_011541958.1 |
XM_011543657.2 |
1768 |
Missense Mutation |
TCG,TTG |
S580L |
XP_011541959.1 |
XM_011543658.2 |
1768 |
Missense Mutation |
TCG,TTG |
S512L |
XP_011541960.1 |
XM_017009911.1 |
1768 |
Missense Mutation |
TCG,TTG |
S631L |
XP_016865400.1 |
XM_017009912.1 |
1768 |
Missense Mutation |
TCG,TTG |
S631L |
XP_016865401.1 |
XM_017009913.1 |
1768 |
Missense Mutation |
TCG,TTG |
S625L |
XP_016865402.1 |
XM_017009914.1 |
1768 |
Missense Mutation |
TCG,TTG |
S625L |
XP_016865403.1 |
XM_017009915.1 |
1768 |
Missense Mutation |
TCG,TTG |
S622L |
XP_016865404.1 |
XM_017009916.1 |
1768 |
Missense Mutation |
TCG,TTG |
S622L |
XP_016865405.1 |
XM_017009917.1 |
1768 |
Missense Mutation |
TCG,TTG |
S616L |
XP_016865406.1 |
XM_017009918.1 |
1768 |
Missense Mutation |
TCG,TTG |
S612L |
XP_016865407.1 |
XM_017009919.1 |
1768 |
Missense Mutation |
TCG,TTG |
S603L |
XP_016865408.1 |
XM_017009920.1 |
1768 |
Missense Mutation |
TCG,TTG |
S594L |
XP_016865409.1 |
XM_017009921.1 |
1768 |
Missense Mutation |
TCG,TTG |
S594L |
XP_016865410.1 |
XM_017009922.1 |
1768 |
Missense Mutation |
TCG,TTG |
S590L |
XP_016865411.1 |
XM_017009923.1 |
1768 |
Missense Mutation |
TCG,TTG |
S590L |
XP_016865412.1 |
XM_017009924.1 |
1768 |
Missense Mutation |
TCG,TTG |
S584L |
XP_016865413.1 |
XM_017009925.1 |
1768 |
Missense Mutation |
TCG,TTG |
S575L |
XP_016865414.1 |
XM_017009926.1 |
1768 |
Missense Mutation |
TCG,TTG |
S575L |
XP_016865415.1 |
XM_017009927.1 |
1768 |
Missense Mutation |
TCG,TTG |
S561L |
XP_016865416.1 |
XM_017009928.1 |
1768 |
Missense Mutation |
TCG,TTG |
S548L |
XP_016865417.1 |
XM_017009929.1 |
1768 |
Missense Mutation |
TCG,TTG |
S539L |
XP_016865418.1 |
XM_017009930.1 |
1768 |
Missense Mutation |
TCG,TTG |
S529L |
XP_016865419.1 |
XM_017009931.1 |
1768 |
Missense Mutation |
TCG,TTG |
S526L |
XP_016865420.1 |
XM_017009932.1 |
1768 |
Missense Mutation |
TCG,TTG |
S507L |
XP_016865421.1 |
- Gene
- ERAP1
- Gene Name
- endoplasmic reticulum aminopeptidase 1
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