Product Details

SNP ID

rs147478032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:114337140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATCTGCCTGGTGGTAGAGCGGA[C/T]GCTCTCGGCAGCCTGCACGGCCCGG

Phenotype

MIM: 605729 MIM: 138610

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AKNA PubMed Links

Gene Details

Gene

AKNA

Gene Name

AT-hook transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317950.1	4039	Missense Mutation	ATC,GTC	I1412V	NP_001304879.1
NM_001317952.1	4039	Missense Mutation	ATC,GTC	I1293V	NP_001304881.1
NM_030767.5	4039	Missense Mutation	ATC,GTC	I1412V	NP_110394.3
XM_005252244.2	4039	Missense Mutation	ATC,GTC	I1412V	XP_005252301.1
XM_005252245.1	4039	Missense Mutation	ATC,GTC	I1412V	XP_005252302.1
XM_005252247.4	4039	Missense Mutation	ATC,GTC	I1412V	XP_005252304.1
XM_005252248.2	4039	Missense Mutation	ATC,GTC	I1380V	XP_005252305.1
XM_006717294.1	4039	Missense Mutation	ATC,GTC	I1412V	XP_006717357.1
XM_006717295.2	4039	Intron			XP_006717358.1
XM_011519063.2	4039	Missense Mutation	ATC,GTC	I1293V	XP_011517365.1
XM_011519064.2	4039	Intron			XP_011517366.1
XM_011519065.2	4039	Missense Mutation	ATC,GTC	I1293V	XP_011517367.2
XM_011519066.2	4039	Intron			XP_011517368.1
XM_017015172.1	4039	Missense Mutation	ATC,GTC	I1293V	XP_016870661.1

Gene

ORM2

Gene Name

orosomucoid 2

There are no transcripts associated with this gene.

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