Product Details

SNP ID

rs201898433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:7236370 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCCAGCTCCTGGCCCCAACTTT[C/T]GGTTCTTTCGGTCCTTCTTTCGAGG

Phenotype

MIM: 610684 MIM: 602151 MIM: 605125 MIM: 612910

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTDNEP1 PubMed Links

Gene Details

Gene

CTDNEP1

Gene Name

CTD nuclear envelope phosphatase 1

There are no transcripts associated with this gene.

Gene

DVL2

Gene Name

dishevelled segment polarity protein 2

There are no transcripts associated with this gene.

Gene

GABARAP

Gene Name

GABA type A receptor-associated protein

There are no transcripts associated with this gene.

Gene

PHF23

Gene Name

PHD finger protein 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284517.1	583	Missense Mutation			NP_001271446.1
NM_001284518.1	583	Missense Mutation			NP_001271447.1
NM_024297.2	583	Missense Mutation			NP_077273.2

View Full Product Details