Product Details

SNP ID

rs34353668

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:41968684 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTGAGACCCTCCGCAAAGCCGGCC[A/G]GGTCTTCCTGGAAGAGCTGGGGAAC

Phenotype

MIM: 123830 MIM: 601964

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CNP PubMed Links

Gene Details

Gene

CNP

Gene Name

2',3'-cyclic nucleotide 3' phosphodiesterase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033133.4	788	Missense Mutation	CAG,CGG	Q207R	NP_149124.3
XM_006721701.3	788	Missense Mutation	CAG,CGG	Q187R	XP_006721764.1
XM_011524340.2	788	Missense Mutation	CAG,CGG	Q187R	XP_011522642.1

Gene

DNAJC7

Gene Name

DnaJ heat shock protein family (Hsp40) member C7

There are no transcripts associated with this gene.

Gene

TTC25

Gene Name

tetratricopeptide repeat domain 25

There are no transcripts associated with this gene.

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