Product Details

SNP ID
rs140059062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:17247306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCCGCGGCTGGGTCCCCCGGTG[A/G]CCTCACCAGCCTCCAGCAGCAGAAG
Phenotype
MIM: 604913 MIM: 609927
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CNOT7 PubMed Links

Gene Details

Gene
CNOT7
Gene Name
CCR4-NOT transcription complex subunit 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322087.1 380 Intron NP_001309016.1
NM_001322088.1 380 Intron NP_001309017.1
NM_001322089.1 380 Intron NP_001309018.1
NM_001322090.1 380 Intron NP_001309019.1
NM_001322091.1 380 Intron NP_001309020.1
NM_001322092.1 380 Intron NP_001309021.1
NM_001322093.1 380 Intron NP_001309022.1
NM_001322094.1 380 Intron NP_001309023.1
NM_001322095.1 380 Intron NP_001309024.1
NM_001322096.1 380 Intron NP_001309025.1
NM_001322097.1 380 Intron NP_001309026.1
NM_001322098.1 380 Intron NP_001309027.1
NM_001322099.1 380 Intron NP_001309028.1
NM_001322100.1 380 Intron NP_001309029.1
NM_013354.6 380 Intron NP_037486.2
NM_054026.3 380 Intron NP_473367.2
XM_005273481.2 380 Intron XP_005273538.1
Gene
VPS37A
Gene Name
VPS37A, ESCRT-I subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145152.1 380 Missense Mutation GAC,GGC D21G NP_001138624.1
NM_152415.2 380 Missense Mutation GAC,GGC D21G NP_689628.2
XM_005273400.2 380 UTR 5 XP_005273457.1
XM_005273401.2 380 UTR 5 XP_005273458.1
XM_006716286.1 380 Missense Mutation GAC,GGC D21G XP_006716349.1
XM_017013021.1 380 Missense Mutation GAC,GGC D21G XP_016868510.1
XM_017013022.1 380 Missense Mutation GAC,GGC D21G XP_016868511.1
XM_017013023.1 380 UTR 5 XP_016868512.1
XM_017013024.1 380 UTR 5 XP_016868513.1
XM_017013025.1 380 UTR 5 XP_016868514.1
XM_017013026.1 380 Intron XP_016868515.1

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