Product Details

SNP ID
rs200609873
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:96762296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAATTTGAAGATGCTAAACTTG[C/G]TGCTGCCATCTCTGAAGTGGTTTCC
Phenotype
MIM: 114090 MIM: 606832
Polymorphism
C/G, Transversion 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 1693 Missense Mutation GCT,GGT A523G NP_001177371.1
XM_006714696.3 1693 Missense Mutation GCT,GGT A619G XP_006714759.1
XM_006714697.3 1693 Missense Mutation GCT,GGT A619G XP_006714760.1
XM_006714698.3 1693 Missense Mutation GCT,GGT A606G XP_006714761.1
XM_006714699.3 1693 Missense Mutation GCT,GGT A604G XP_006714762.1
XM_006714700.3 1693 Missense Mutation GCT,GGT A600G XP_006714763.1
XM_006714701.3 1693 Missense Mutation GCT,GGT A597G XP_006714764.1
XM_006714702.3 1693 Missense Mutation GCT,GGT A585G XP_006714765.1
XM_006714703.3 1693 Missense Mutation GCT,GGT A584G XP_006714766.1
XM_006714704.3 1693 Missense Mutation GCT,GGT A582G XP_006714767.1
XM_006714705.3 1693 Missense Mutation GCT,GGT A578G XP_006714768.1
XM_006714706.3 1693 Missense Mutation GCT,GGT A563G XP_006714769.1
XM_006714707.3 1693 Missense Mutation GCT,GGT A536G XP_006714770.1
XM_006714708.3 1693 Missense Mutation GCT,GGT A523G XP_006714771.1
XM_006714709.3 1693 Missense Mutation GCT,GGT A517G XP_006714772.1
XM_006714710.3 1693 Missense Mutation GCT,GGT A501G XP_006714773.1
XM_006714711.3 1693 Missense Mutation GCT,GGT A495G XP_006714774.1
XM_006714712.3 1693 Missense Mutation GCT,GGT A482G XP_006714775.1
XM_006714713.3 1693 Missense Mutation GCT,GGT A259G XP_006714776.1
XM_006714714.3 1693 Missense Mutation GCT,GGT A259G XP_006714777.1
XM_006714715.3 1693 Missense Mutation GCT,GGT A251G XP_006714778.1
XM_011543654.2 1693 Missense Mutation GCT,GGT A592G XP_011541956.1
XM_011543655.2 1693 Missense Mutation GCT,GGT A591G XP_011541957.1
XM_011543656.2 1693 Missense Mutation GCT,GGT A570G XP_011541958.1
XM_011543657.2 1693 Missense Mutation GCT,GGT A555G XP_011541959.1
XM_011543658.2 1693 Missense Mutation GCT,GGT A487G XP_011541960.1
XM_017009911.1 1693 Missense Mutation GCT,GGT A606G XP_016865400.1
XM_017009912.1 1693 Missense Mutation GCT,GGT A606G XP_016865401.1
XM_017009913.1 1693 Missense Mutation GCT,GGT A600G XP_016865402.1
XM_017009914.1 1693 Missense Mutation GCT,GGT A600G XP_016865403.1
XM_017009915.1 1693 Missense Mutation GCT,GGT A597G XP_016865404.1
XM_017009916.1 1693 Missense Mutation GCT,GGT A597G XP_016865405.1
XM_017009917.1 1693 Missense Mutation GCT,GGT A591G XP_016865406.1
XM_017009918.1 1693 Missense Mutation GCT,GGT A587G XP_016865407.1
XM_017009919.1 1693 Missense Mutation GCT,GGT A578G XP_016865408.1
XM_017009920.1 1693 Missense Mutation GCT,GGT A569G XP_016865409.1
XM_017009921.1 1693 Missense Mutation GCT,GGT A569G XP_016865410.1
XM_017009922.1 1693 Missense Mutation GCT,GGT A565G XP_016865411.1
XM_017009923.1 1693 Missense Mutation GCT,GGT A565G XP_016865412.1
XM_017009924.1 1693 Missense Mutation GCT,GGT A559G XP_016865413.1
XM_017009925.1 1693 Missense Mutation GCT,GGT A550G XP_016865414.1
XM_017009926.1 1693 Missense Mutation GCT,GGT A550G XP_016865415.1
XM_017009927.1 1693 Missense Mutation GCT,GGT A536G XP_016865416.1
XM_017009928.1 1693 Missense Mutation GCT,GGT A523G XP_016865417.1
XM_017009929.1 1693 Missense Mutation GCT,GGT A514G XP_016865418.1
XM_017009930.1 1693 Missense Mutation GCT,GGT A504G XP_016865419.1
XM_017009931.1 1693 Missense Mutation GCT,GGT A501G XP_016865420.1
XM_017009932.1 1693 Missense Mutation GCT,GGT A482G XP_016865421.1
Gene
ERAP1
Gene Name
endoplasmic reticulum aminopeptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040458.1 1693 Intron NP_001035548.1
NM_001198541.1 1693 Intron NP_001185470.1
NM_016442.3 1693 UTR 3 NP_057526.3
XM_005272015.4 1693 Intron XP_005272072.1
XM_005272016.4 1693 Intron XP_005272073.1
XM_011543480.2 1693 Intron XP_011541782.1
XM_011543481.2 1693 Intron XP_011541783.1
XM_011543484.2 1693 Intron XP_011541786.1
XM_011543485.2 1693 Intron XP_011541787.1
XM_011543486.2 1693 Intron XP_011541788.1
XM_017009580.1 1693 Intron XP_016865069.1
XM_017009581.1 1693 Intron XP_016865070.1
XM_017009582.1 1693 UTR 3 XP_016865071.1
XM_017009583.1 1693 Intron XP_016865072.1

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