Product Details

SNP ID

rs115363888

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:23693378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCTTCGCGCTGCAGATCTTCCC[C/T]GAGGTGGCCGCCCAGGAGGAGATCC

Phenotype

MIM: 615347

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATAD2B PubMed Links

Gene Details

Gene

ATAD2B

Gene Name

ATPase family, AAA domain containing 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242338.2	1799	Intron			NP_001229267.2
NM_017552.3	1799	Intron			NP_060022.2
XM_005264372.3	1799	Intron			XP_005264429.2
XM_006712030.3	1799	Intron			XP_006712093.1
XM_006712031.3	1799	Intron			XP_006712094.1
XM_011532918.2	1799	Intron			XP_011531220.1
XM_011532919.2	1799	Intron			XP_011531221.1
XM_011532920.2	1799	Intron			XP_011531222.1
XM_011532921.2	1799	Intron			XP_011531223.1
XM_011532924.2	1799	Intron			XP_011531226.1
XM_011532925.2	1799	Intron			XP_011531227.1
XM_011532928.1	1799	Intron			XP_011531230.1
XM_011532929.2	1799	Intron			XP_011531231.1
XM_011532930.2	1799	Intron			XP_011531232.1
XM_011532931.2	1799	Intron			XP_011531233.1
XM_011532932.1	1799	Intron			XP_011531234.1
XM_017004375.1	1799	Intron			XP_016859864.1

Gene

KLHL29

Gene Name

kelch like family member 29

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052920.1	1799	Silent Mutation	CCC,CCT	P464P	NP_443152.1
XM_006711929.3	1799	Silent Mutation	CCC,CCT	P464P	XP_006711992.1
XM_011532501.2	1799	Silent Mutation	CCC,CCT	P158P	XP_011530803.1
XM_017003264.1	1799	Silent Mutation	CCC,CCT	P464P	XP_016858753.1

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