Product Details

SNP ID

rs143492331

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119020200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTGAACAGGGAAGCTCAGGCA[C/T]TGAGATGCTGGAGACAGACACATTC

Phenotype

MIM: 180465 MIM: 602671 MIM: 610971

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CCDC84 PubMed Links

Additional Information

For this assay, SNP(s) [rs61730037] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CCDC84

Gene Name

coiled-coil domain containing 84

There are no transcripts associated with this gene.

Gene

MIR3656

Gene Name

microRNA 3656

There are no transcripts associated with this gene.

Gene

RPS25

Gene Name

ribosomal protein S25

There are no transcripts associated with this gene.

Gene

SLC37A4

Gene Name

solute carrier family 37 member 4

There are no transcripts associated with this gene.

Gene

TRAPPC4

Gene Name

trafficking protein particle complex 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318486.1	728	Intron			NP_001305415.1
NM_001318488.1	728	Missense Mutation	ACT,ATT	T134I	NP_001305417.1
NM_001318489.1	728	Intron			NP_001305418.1
NM_001318490.1	728	Missense Mutation	ACT,ATT	T91I	NP_001305419.1
NM_001318492.1	728	Missense Mutation	ACT,ATT	T29I	NP_001305421.1
NM_001318494.1	728	Intron			NP_001305423.1
NM_016146.5	728	Missense Mutation	ACT,ATT	T134I	NP_057230.1

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