Product Details

SNP ID

rs12471298

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96861051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGCCTTGGCCCCTTTCTCCAGCT[A/C]TTCCCGCAGCCGCCGGCGCAATGAC

Phenotype

MIM: 604462

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ANKRD39 PubMed Links

Additional Information

For this assay, SNP(s) [rs12476284] 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

ANKRD39

Gene Name

ankyrin repeat domain 39

There are no transcripts associated with this gene.

Gene

SEMA4C

Gene Name

semaphorin 4C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017789.4	2237	Nonsense Mutation	GAG,TAG	E693*	NP_060259.4
XM_006712606.3	2237	Intron			XP_006712669.2
XM_011511378.2	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509680.1
XM_011511379.2	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509681.1
XM_011511380.1	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509682.1
XM_011511381.1	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509683.1
XM_011511382.2	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509684.1
XM_011511383.1	2237	Nonsense Mutation	GAG,TAG	E693*	XP_011509685.1
XM_017004393.1	2237	Nonsense Mutation	GAG,TAG	E735*	XP_016859882.1
XM_017004394.1	2237	Nonsense Mutation	GAG,TAG	E552*	XP_016859883.1

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