Product Details

SNP ID

rs7446

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.13:49701379 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

GACAATGATGGAGGCTCAGATCACA[C/T]TGCACCTCTTTAGTCTTCCAACTTG

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	2085	UTR 3			NP_002258.2
XM_017020561.1	2085	UTR 3			XP_016876050.1

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