Product Details

SNP ID
rs76790310
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:193018533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTAAATGTGGTGTGTATTCAAC[A/G]AATTCATCGGTTAAAAAGTCTCACA
Phenotype
MIM: 610667
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
UCHL5 PubMed Links

Gene Details

Gene
UCHL5
Gene Name
ubiquitin C-terminal hydrolase L5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199261.1 1602 Intron NP_001186190.1
NM_001199262.1 1602 UTR 3 NP_001186191.1
NM_001199263.1 1602 UTR 3 NP_001186192.1
NM_015984.3 1602 Intron NP_057068.1
XM_005245244.4 1602 Intron XP_005245301.1
XM_005245246.4 1602 Intron XP_005245303.1
XM_005245247.4 1602 Intron XP_005245304.1
XM_005245248.4 1602 Intron XP_005245305.1
XM_005245249.4 1602 Intron XP_005245306.1
XM_006711366.3 1602 Intron XP_006711429.1
XM_006711367.3 1602 Intron XP_006711430.1
XM_006711368.3 1602 UTR 3 XP_006711431.1
XM_006711369.2 1602 UTR 3 XP_006711432.1
XM_006711370.3 1602 Intron XP_006711433.3
XM_006711371.3 1602 Intron XP_006711434.1
XM_011509604.1 1602 UTR 3 XP_011507906.1
XM_011509607.2 1602 Intron XP_011507909.1
XM_011509608.2 1602 Intron XP_011507910.1
XM_011509609.2 1602 Intron XP_011507911.1
XM_017001429.1 1602 Intron XP_016856918.1
XM_017001430.1 1602 UTR 3 XP_016856919.1
XM_017001431.1 1602 Intron XP_016856920.1
XM_017001432.1 1602 UTR 3 XP_016856921.1
XM_017001433.1 1602 UTR 3 XP_016856922.1
XM_017001434.1 1602 Intron XP_016856923.1
XM_017001435.1 1602 Intron XP_016856924.1
XM_017001436.1 1602 Intron XP_016856925.1
XM_017001437.1 1602 Intron XP_016856926.1
XM_017001438.1 1602 Intron XP_016856927.1
XM_017001439.1 1602 Intron XP_016856928.1
XM_017001440.1 1602 Intron XP_016856929.1
XM_017001441.1 1602 Intron XP_016856930.1
XM_017001442.1 1602 Intron XP_016856931.1
XM_017001443.1 1602 Intron XP_016856932.1
XM_017001444.1 1602 UTR 3 XP_016856933.1

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