Product Details

SNP ID

rs148886167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:53492565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATATTTAAAAAATTACTGGTGAG[A/G]AGATTTCAGCACTGTACAAACTTGT

Phenotype

MIM: 608483 MIM: 180203

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AKTIP PubMed Links

Gene Details

Gene

AKTIP

Gene Name

AKT interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012398.2		Intron			NP_001012398.1
NM_001308325.1		Intron			NP_001295254.1
NM_022476.3		Intron			NP_071921.1
XM_005256095.4		Intron			XP_005256152.1
XM_005256096.4		Intron			XP_005256153.1
XM_005256097.4		Intron			XP_005256154.1
XM_005256098.4		Intron			XP_005256155.1
XM_017023564.1		Intron			XP_016879053.1
XM_017023565.1		Intron			XP_016879054.1
XM_017023566.1		Intron			XP_016879055.1

Gene

RBL2

Gene Name

RB transcriptional corepressor like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323608.1		Intron			NP_001310537.1
NM_001323609.1		Intron			NP_001310538.1
NM_001323610.1		Intron			NP_001310539.1
NM_001323611.1		Intron			NP_001310540.1
NM_005611.3		Intron			NP_005602.3
XM_011523253.2		Intron			XP_011521555.1
XM_017023513.1		Intron			XP_016879002.1

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