Product Details

SNP ID

rs12476284

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96861050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTAGCCTTGGCCCCTTTCTCCAGC[A/T]CTTCCCGCAGCCGCCGGCGCAATGA

Phenotype

MIM: 604462

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

ANKRD39 PubMed Links

Additional Information

For this assay, SNP(s) [rs12471298] 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	2238	Missense Mutation	GAG,GTG	E693V	NP_060259.4
XM_006712606.3	2238	Intron			XP_006712669.2
XM_011511378.2	2238	Missense Mutation	GAG,GTG	E693V	XP_011509680.1
XM_011511379.2	2238	Missense Mutation	GAG,GTG	E693V	XP_011509681.1
XM_011511380.1	2238	Missense Mutation	GAG,GTG	E693V	XP_011509682.1
XM_011511381.1	2238	Missense Mutation	GAG,GTG	E693V	XP_011509683.1
XM_011511382.2	2238	Missense Mutation	GAG,GTG	E693V	XP_011509684.1
XM_011511383.1	2238	Missense Mutation	GAG,GTG	E693V	XP_011509685.1
XM_017004393.1	2238	Missense Mutation	GAG,GTG	E735V	XP_016859882.1
XM_017004394.1	2238	Missense Mutation	GAG,GTG	E552V	XP_016859883.1

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