Product Details

SNP ID: rs200206163
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:67492041 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAGGCTGGTGTGGGCCTCACTCCT[C/T]GCTGTCCAGCTTCAGGCTGATGCTC
Phenotype: MIM: 605555 MIM: 608794
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: AIP PubMed Links

Gene Details

Gene: AIP
Gene Name: aryl hydrocarbon receptor interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001302959.1	3969	Intron			NP_001289888.1
NM_001302960.1	3969	Intron			NP_001289889.1
NM_003977.3	3969	Intron			NP_003968.3

Gene: MIR6752
Gene Name: microRNA 6752

There are no transcripts associated with this gene.

Gene: PITPNM1
Gene Name: phosphatidylinositol transfer protein membrane associated 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130848.1	3969	Missense Mutation	AAG,GAG	K1242E	NP_001124320.1
NM_004910.2	3969	Missense Mutation	AAG,GAG	K1243E	NP_004901.2
XM_011545396.2	3969	Missense Mutation	AAG,GAG	K1242E	XP_011543698.1
XM_017018586.1	3969	Missense Mutation	AAG,GAG	K1243E	XP_016874075.1

View Full Product Details