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SNP ID

rs2240425

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:31326933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGGCTGCTGGTCAACCTCAGG[A/C]TCTACTAAAGATGACGCAAATGCCG

Phenotype

MIM: 605165

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PATZ1 PubMed Links

Gene Details

Gene

PATZ1

Gene Name

POZ/BTB and AT hook containing zinc finger 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014323.2	2545	Missense Mutation	GAG,GAT	E674D	NP_055138.2
NM_032050.1	2545	Missense Mutation	GAG,GAT	E628D	NP_114439.1
NM_032051.1	2545	Intron			NP_114440.1
NM_032052.1	2545	UTR 3			NP_114441.1

Gene

PIK3IP1-AS1

Gene Name

PIK3IP1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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