Product Details

SNP ID

rs1050282

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3673749 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTGGTCCCTGTGATGTGGCATT[C/G]ATAGCACCCAATGTACAAATTTCCC

Phenotype

MIM: 602836 MIM: 616484

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EMC6 PubMed Links

Gene Details

Gene

EMC6

Gene Name

ER membrane protein complex subunit 6

There are no transcripts associated with this gene.

Gene

P2RX5

Gene Name

purinergic receptor P2X 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204519.1	1715	UTR 3			NP_001191448.1
NM_001204520.1	1715	UTR 3			NP_001191449.1
NM_002561.3	1715	UTR 3			NP_002552.2
NM_175080.2	1715	UTR 3			NP_778255.1

Gene

P2RX5-TAX1BP3

Gene Name

P2RX5-TAX1BP3 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

TAX1BP3

Gene Name

Tax1 binding protein 3

There are no transcripts associated with this gene.

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