Product Details

SNP ID

rs192558333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:47667670 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGAAGTGACTTCTTTTTTTTCTT[C/G]TTAAACATCTTCTTTTTCTGAGTCA

Phenotype

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AGBL2 PubMed Links

Gene Details

Gene

AGBL2

Gene Name

ATP/GTP binding protein like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024783.3	2043	Missense Mutation	AAC,AAG	N747K	NP_079059.2
XM_005253138.4	2043	Missense Mutation	AAC,AAG	N709K	XP_005253195.1
XM_005253139.4	2043	Missense Mutation	AAC,AAG	N709K	XP_005253196.1
XM_005253140.4	2043	Intron			XP_005253197.1
XM_005253141.4	2043	Intron			XP_005253198.1
XM_006718327.3	2043	Missense Mutation	AAC,AAG	N691K	XP_006718390.1
XM_006718328.3	2043	Missense Mutation	AAC,AAG	N691K	XP_006718391.1
XM_011520372.2	2043	Missense Mutation	AAC,AAG	N709K	XP_011518674.1
XM_011520373.2	2043	Missense Mutation	AAC,AAG	N709K	XP_011518675.1
XM_011520374.2	2043	Missense Mutation	AAC,AAG	N673K	XP_011518676.1
XM_011520375.2	2043	Missense Mutation	AAC,AAG	N664K	XP_011518677.1
XM_011520376.2	2043	Missense Mutation	AAC,AAG	N611K	XP_011518678.1
XM_011520377.2	2043	Missense Mutation	AAC,AAG	N611K	XP_011518679.1
XM_011520378.2	2043	Missense Mutation	AAC,AAG	N611K	XP_011518680.1
XM_011520379.2	2043	Missense Mutation	AAC,AAG	N611K	XP_011518681.1
XM_011520381.2	2043	Intron			XP_011518683.1
XM_017018331.1	2043	Missense Mutation	AAC,AAG	N709K	XP_016873820.1
XM_017018332.1	2043	Missense Mutation	AAC,AAG	N671K	XP_016873821.1
XM_017018333.1	2043	Intron			XP_016873822.1

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