Product Details

SNP ID

rs7553830

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:193066727 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTAATATATAAACATGTTCAAGTAA[A/G]CATGATCTTCAGAACAAAACTTCTT

Phenotype

MIM: 600063 MIM: 610667

Polymorphism

A/G, Transition 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		Intron			NP_001035828.1
NM_001042370.2		Intron			NP_001035829.2
NM_001173524.1		Intron			NP_001166995.1
NM_001173525.1		Intron			NP_001166996.1
NM_004600.5		Intron			NP_004591.2
XM_006711495.3		Intron			XP_006711558.1
XM_006711496.3		Intron			XP_006711559.1
XM_006711497.3		Intron			XP_006711560.1
XM_011509922.2		Intron			XP_011508224.1
XM_017002180.1		Intron			XP_016857669.1
XM_017002181.1		Intron			XP_016857670.1
XM_017002182.1		Intron			XP_016857671.1
XM_017002183.1		Intron			XP_016857672.1

Gene

UCHL5

Gene Name

ubiquitin C-terminal hydrolase L5

There are no transcripts associated with this gene.

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