Product Details

SNP ID

rs142370840

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:153986227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAACTTGAAGAGGTGGTCGTAGG[C/T]TTTGGCCATGGCGGACACCGGGGGA

Phenotype

MIM: 604671 MIM: 602672 MIM: 603702

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

JTB PubMed Links

Gene Details

Gene

JTB

Gene Name

jumping translocation breakpoint

There are no transcripts associated with this gene.

Gene

NUP210L

Gene Name

nucleoporin 210 like

There are no transcripts associated with this gene.

Gene

RAB13

Gene Name

RAB13, member RAS oncogene family

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272038.1	151	Intron			NP_001258967.1
NM_002870.3	151	Missense Mutation	ACC,GCC	T4A	NP_002861.1
XM_017001959.1	151	Intron			XP_016857448.1

Gene

RPS27

Gene Name

ribosomal protein S27

There are no transcripts associated with this gene.

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