Product Details

SNP ID

rs117894982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98732290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATAGTATATTCAGCATTAAATC[C/T]GAGACATTTTCCTCCTGTTTGCTTG

Phenotype

MIM: 607815 MIM: 602233

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ANKS1B PubMed Links

Gene Details

Gene

ANKS1B

Gene Name

ankyrin repeat and sterile alpha motif domain containing 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204065.1	7579	Intron			NP_001190994.1
NM_001204066.1	7579	Intron			NP_001190995.1
NM_001204067.1	7579	Intron			NP_001190996.1
NM_001204068.1	7579	Intron			NP_001190997.1
NM_001204069.1	7579	Intron			NP_001190998.1
NM_001204070.1	7579	Intron			NP_001190999.1
NM_001204079.1	7579	Intron			NP_001191008.1
NM_001204080.1	7579	Intron			NP_001191009.1
NM_001204081.1	7579	Intron			NP_001191010.1
NM_020140.3	7579	Intron			NP_064525.1
NM_152788.4	7579	Intron			NP_690001.3
NM_181670.3	7579	Intron			NP_858056.2
XM_005269028.4	7579	Intron			XP_005269085.1
XM_005269029.4	7579	Intron			XP_005269086.1
XM_005269032.3	7579	Intron			XP_005269089.1
XM_006719504.3	7579	Intron			XP_006719567.1
XM_006719505.3	7579	Intron			XP_006719568.1
XM_006719506.3	7579	Intron			XP_006719569.1
XM_006719507.3	7579	Intron			XP_006719570.1
XM_006719508.3	7579	Intron			XP_006719571.1
XM_006719509.3	7579	Intron			XP_006719572.1
XM_006719510.3	7579	Intron			XP_006719573.1
XM_006719512.3	7579	Intron			XP_006719575.1
XM_006719513.3	7579	Intron			XP_006719576.1
XM_006719514.3	7579	Intron			XP_006719577.1
XM_011538571.2	7579	Intron			XP_011536873.1
XM_017019651.1	7579	Intron			XP_016875140.1
XM_017019652.1	7579	Intron			XP_016875141.1
XM_017019653.1	7579	UTR 3			XP_016875142.1
XM_017019654.1	7579	Intron			XP_016875143.1
XM_017019655.1	7579	Intron			XP_016875144.1
XM_017019656.1	7579	Intron			XP_016875145.1
XM_017019657.1	7579	Intron			XP_016875146.1
XM_017019658.1	7579	Intron			XP_016875147.1
XM_017019659.1	7579	Intron			XP_016875148.1
XM_017019660.1	7579	Intron			XP_016875149.1
XM_017019661.1	7579	Intron			XP_016875150.1
XM_017019662.1	7579	Intron			XP_016875151.1
XM_017019663.1	7579	Intron			XP_016875152.1
XM_017019664.1	7579	Intron			XP_016875153.1
XM_017019665.1	7579	Intron			XP_016875154.1

Gene

APAF1

Gene Name

apoptotic peptidase activating factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001160.2	7579	Intron			NP_001151.1
NM_013229.2	7579	Intron			NP_037361.1
NM_181861.1	7579	Intron			NP_863651.1
NM_181868.1	7579	Intron			NP_863658.1
NM_181869.1	7579	Intron			NP_863659.1
XM_017019250.1	7579	Intron			XP_016874739.1

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