Product Details

SNP ID

rs1048166

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.15:41899842 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GGAAAAACCAGTAAGAAAAGCTAAT[C/T]TTCAGGCTTCAATGTGATTTGACAT

Phenotype

MIM: 605892 MIM: 605916

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

EHD4 PubMed Links

Additional Information

For this assay, SNP(s) [rs74573199] are located under a primer 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

EHD4

Gene Name

EH domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_139265.3	2492	UTR 3			NP_644670.1
XM_017022100.1	2492	UTR 3			XP_016877589.1

Gene

LOC105370792

Gene Name

uncharacterized LOC105370792

There are no transcripts associated with this gene.

Gene

SPTBN5

Gene Name

spectrin beta, non-erythrocytic 5

There are no transcripts associated with this gene.

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