Product Details

SNP ID

rs187557274

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178118148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACGTACGATACTTAAAACCATCA[C/T]AAGCTGCCCAAGCAATAGAAAACTG

Phenotype

MIM: 604961 MIM: 608888

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PDE11A PubMed Links

Gene Details

Gene

PDE11A

Gene Name

phosphodiesterase 11A

There are no transcripts associated with this gene.

Gene

RBM45

Gene Name

RNA binding motif protein 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152945.3	1084	Nonsense Mutation	CAA,TAA	Q173*	NP_694453.2
XM_005246287.4	1084	Nonsense Mutation	CAA,TAA	Q173*	XP_005246344.1
XM_017003320.1	1084	Nonsense Mutation	CAA,TAA	Q316*	XP_016858809.1
XM_017003321.1	1084	Nonsense Mutation	CAA,TAA	Q316*	XP_016858810.1
XM_017003322.1	1084	Nonsense Mutation	CAA,TAA	Q173*	XP_016858811.1

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