Product Details

SNP ID

rs199874491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:14644461 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTCTTCAGCATCGCCTGTGCCT[C/T]CTTCTTCCTCACCTGCTTCCTCACC

Phenotype

MIM: 602047 MIM: 602854

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PDE3B PubMed Links

Gene Details

Gene

PDE3B

Gene Name

phosphodiesterase 3B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000922.3	771	Missense Mutation	TCC,TTC	S129F	NP_000913.2
XM_006718249.3	771	Missense Mutation	TCC,TTC	S129F	XP_006718312.1
XM_017017911.1	771	Missense Mutation	TCC,TTC	S129F	XP_016873400.1
XM_017017912.1	771	Missense Mutation	TCC,TTC	S129F	XP_016873401.1

Gene

PSMA1

Gene Name

proteasome subunit alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143937.1	771	Intron			NP_001137409.1
NM_002786.3	771	Intron			NP_002777.1
NM_148976.2	771	Intron			NP_683877.1

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