Product Details

SNP ID

rs12190454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:37258920 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTGCTACCTTTTCTAATGGATTCA[A/G]GTTTTTTCCTTCTGGGATAATCTTT

Phenotype

MIM: 616880

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TBC1D22B PubMed Links

Gene Details

Gene

TBC1D22B

Gene Name

TBC1 domain family member 22B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017772.3	115	Intron			NP_060242.2
XM_011514738.2	115	Intron			XP_011513040.1
XM_011514739.1	115	Intron			XP_011513041.1

Gene

TMEM217

Gene Name

transmembrane protein 217

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001162900.1	115	Intron			NP_001156372.1
NM_001286401.1	115	Intron			NP_001273330.1
NM_145316.3	115	Intron			NP_660359.2
XM_011514362.1	115	Intron			XP_011512664.1
XM_011514363.2	115	Intron			XP_011512665.1
XM_011514364.2	115	Intron			XP_011512666.1
XM_011514365.2	115	UTR 5			XP_011512667.1
XM_011514366.2	115	Intron			XP_011512668.1
XM_011514367.2	115	Intron			XP_011512669.1
XM_011514369.2	115	Intron			XP_011512671.1
XM_011514370.2	115	Intron			XP_011512672.1

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