Product Details

SNP ID

rs141209616

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:10433899 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTCTTTGCGAGGAAGTTGCATTG[A/G]ACAAAGAGATGCAGTTCAGCAAACA

Phenotype

MIM: 609130

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APITD1 PubMed Links

Gene Details

Gene

APITD1

Gene Name

apoptosis-inducing, TAF9-like domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199294.2	525	Missense Mutation	AAC,GAC	N37D	NP_954988.1

Gene

APITD1-CORT

Gene Name

APITD1-CORT readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243768.1	525	Intron			NP_001230697.1
NM_001270517.1	525	Missense Mutation	AAC,GAC	N37D	NP_001257446.1
NM_198544.3	525	Missense Mutation	AAC,GAC	N37D	NP_940946.1
NM_199006.2	525	Missense Mutation	AAC,GAC	N37D	NP_950171.2

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