Product Details

SNP ID

rs146938181

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:10433933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCAGTTCAGCAAACAGACCATTG[C/T]GGCCATTTCGGAGCTGACTTTCCGA

Phenotype

MIM: 609130

Polymorphism

C/T, 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	559	Missense Mutation	GCG,GTG	A48V	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	559	Intron			NP_001230697.1
NM_001270517.1	559	Missense Mutation	GCG,GTG	A48V	NP_001257446.1
NM_198544.3	559	Missense Mutation	GCG,GTG	A48V	NP_940946.1
NM_199006.2	559	Missense Mutation	GCG,GTG	A48V	NP_950171.2

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