Product Details

SNP ID

rs41265201

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:193059916 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCCGCGAAACTATCGCTCTTCCC[A/C]GTCCCGCTTCCGCGCCTGTCCACCC

Phenotype

MIM: 600063 MIM: 610667

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SCARNA18B PubMed Links

Gene Details

Gene

SCARNA18B

Gene Name

small Cajal body-specific RNA 18B

There are no transcripts associated with this gene.

Gene

TROVE2

Gene Name

TROVE domain family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042369.2	192	UTR 5			NP_001035828.1
NM_001042370.2	192	UTR 5			NP_001035829.2
NM_001173524.1	192	Intron			NP_001166995.1
NM_001173525.1	192	UTR 5			NP_001166996.1
NM_004600.5	192	UTR 5			NP_004591.2
XM_006711495.3	192	Intron			XP_006711558.1
XM_006711496.3	192	UTR 5			XP_006711559.1
XM_006711497.3	192	UTR 5			XP_006711560.1
XM_011509922.2	192	UTR 5			XP_011508224.1
XM_017002180.1	192	Intron			XP_016857669.1
XM_017002181.1	192	UTR 5			XP_016857670.1
XM_017002182.1	192	Intron			XP_016857671.1
XM_017002183.1	192	Intron			XP_016857672.1

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	192	Intron			NP_001186190.1
NM_001199262.1	192	Intron			NP_001186191.1
NM_001199263.1	192	Intron			NP_001186192.1
NM_015984.3	192	Intron			NP_057068.1
XM_005245244.4	192	Intron			XP_005245301.1
XM_005245246.4	192	Intron			XP_005245303.1
XM_005245247.4	192	Intron			XP_005245304.1
XM_005245248.4	192	Intron			XP_005245305.1
XM_005245249.4	192	Intron			XP_005245306.1
XM_006711366.3	192	Intron			XP_006711429.1
XM_006711367.3	192	Intron			XP_006711430.1
XM_006711368.3	192	Intron			XP_006711431.1
XM_006711369.2	192	Intron			XP_006711432.1
XM_006711370.3	192	Missense Mutation	CAG,CCG	Q28P	XP_006711433.3
XM_006711371.3	192	Intron			XP_006711434.1
XM_011509604.1	192	Intron			XP_011507906.1
XM_011509607.2	192	Intron			XP_011507909.1
XM_011509608.2	192	Intron			XP_011507910.1
XM_011509609.2	192	Intron			XP_011507911.1
XM_017001429.1	192	Intron			XP_016856918.1
XM_017001430.1	192	Intron			XP_016856919.1
XM_017001431.1	192	Intron			XP_016856920.1
XM_017001432.1	192	Intron			XP_016856921.1
XM_017001433.1	192	Intron			XP_016856922.1
XM_017001434.1	192	Missense Mutation	CAG,CCG	Q28P	XP_016856923.1
XM_017001435.1	192	Missense Mutation	CAG,CCG	Q28P	XP_016856924.1
XM_017001436.1	192	Intron			XP_016856925.1
XM_017001437.1	192	Intron			XP_016856926.1
XM_017001438.1	192	Intron			XP_016856927.1
XM_017001439.1	192	UTR 5			XP_016856928.1
XM_017001440.1	192	UTR 5			XP_016856929.1
XM_017001441.1	192	UTR 5			XP_016856930.1
XM_017001442.1	192	Intron			XP_016856931.1
XM_017001443.1	192	Intron			XP_016856932.1
XM_017001444.1	192	UTR 5			XP_016856933.1

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