Product Details

SNP ID

rs202131118

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:153982426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCCTGACTTGAGCAAGATGTCCC[A/G]GGCCAGGGAACTAAAAGCCTAAAGT

Phenotype

MIM: 607138 MIM: 604671 MIM: 602672 MIM: 603702

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CREB3L4 PubMed Links

Gene Details

Gene

CREB3L4

Gene Name

cAMP responsive element binding protein 3 like 4

There are no transcripts associated with this gene.

Gene

JTB

Gene Name

jumping translocation breakpoint

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	758	Missense Mutation			NP_001258967.1
NM_002870.3	758	Missense Mutation			NP_002861.1
XM_017001959.1	758	Intron			XP_016857448.1

Gene

RPS27

Gene Name

ribosomal protein S27

There are no transcripts associated with this gene.

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