Product Details

SNP ID

rs199777356

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:10451504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAAGCCCGGGAGGTGGCCAGGC[G/T]GCAGGAAGGCGCACCCCCCCAGCAA

Phenotype

MIM: 609130 MIM: 602784 MIM: 601882

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

APITD1 PubMed Links

Gene Details

Gene

APITD1

Gene Name

apoptosis-inducing, TAF9-like domain 1

There are no transcripts associated with this gene.

Gene

APITD1-CORT

Gene Name

APITD1-CORT readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243768.1	732	Missense Mutation	CGG,CTG	R114L	NP_001230697.1
NM_001270517.1	732	UTR 3			NP_001257446.1
NM_198544.3	732	Missense Mutation	CGG,CTG	R135L	NP_940946.1
NM_199006.2	732	UTR 3			NP_950171.2

Gene

CORT

Gene Name

cortistatin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302.4	732	Missense Mutation	CGG,CTG	R76L	NP_001293.3

Gene

DFFA

Gene Name

DNA fragmentation factor subunit alpha

There are no transcripts associated with this gene.

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