Product Details

SNP ID
rs185493260
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:128801438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGAGATGGAGATCGCCTCCCTCC[A/G]TGCAGAAATGGAAATGAAGAGCTCT
Phenotype
MIM: 611902
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CCDC136 PubMed Links

Gene Details

Gene
CCDC136
Gene Name
coiled-coil domain containing 136
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201372.1 799 Missense Mutation CAT,CGT H250R NP_001188301.1
NM_022742.4 799 Missense Mutation CAT,CGT H200R NP_073579.4
XM_005250534.3 799 Missense Mutation CAT,CGT H250R XP_005250591.1
XM_005250538.1 799 Missense Mutation CAT,CGT H250R XP_005250595.1
XM_011516483.1 799 Missense Mutation CAT,CGT H250R XP_011514785.1
XM_011516484.1 799 Missense Mutation CAT,CGT H250R XP_011514786.1
XM_011516485.1 799 Missense Mutation CAT,CGT H250R XP_011514787.1
XM_011516486.1 799 Missense Mutation CAT,CGT H250R XP_011514788.1
XM_011516487.2 799 Missense Mutation CAT,CGT H250R XP_011514789.1
XM_011516488.2 799 Missense Mutation CAT,CGT H250R XP_011514790.1
XM_011516489.1 799 Missense Mutation CAT,CGT H250R XP_011514791.1
XM_011516490.2 799 Missense Mutation CAT,CGT H250R XP_011514792.1
XM_017012532.1 799 Missense Mutation CAT,CGT H250R XP_016868021.1
XM_017012533.1 799 Missense Mutation CAT,CGT H200R XP_016868022.1
XM_017012534.1 799 Missense Mutation CAT,CGT H250R XP_016868023.1
XM_017012535.1 799 Missense Mutation CAT,CGT H250R XP_016868024.1
XM_017012536.1 799 Missense Mutation CAT,CGT H250R XP_016868025.1

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