Product Details

SNP ID

rs140385606

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:49699866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCCTACTTTTAGCGAACACCACA[C/T]AGTTTCAAAAATTTAGACTATAGTG

Phenotype

MIM: 601892

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EBPL PubMed Links

Gene Details

Gene

EBPL

Gene Name

emopamil binding protein like

There are no transcripts associated with this gene.

Gene

KPNA3

Gene Name

karyopherin subunit alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002267.3	3598	UTR 3			NP_002258.2
XM_017020561.1	3598	UTR 3			XP_016876050.1

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