Product Details

SNP ID

rs187010424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98734250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTTTTCCTTCCTTCTTTCCTTT[C/T]TCTTCTTTTATCTCCAAGGTTAATC

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	5367	Intron			NP_001190994.1
NM_001204066.1	5367	Intron			NP_001190995.1
NM_001204067.1	5367	Intron			NP_001190996.1
NM_001204068.1	5367	Intron			NP_001190997.1
NM_001204069.1	5367	Intron			NP_001190998.1
NM_001204070.1	5367	Intron			NP_001190999.1
NM_001204079.1	5367	Intron			NP_001191008.1
NM_001204080.1	5367	Intron			NP_001191009.1
NM_001204081.1	5367	Intron			NP_001191010.1
NM_020140.3	5367	Intron			NP_064525.1
NM_152788.4	5367	Intron			NP_690001.3
NM_181670.3	5367	Intron			NP_858056.2
XM_005269028.4	5367	Intron			XP_005269085.1
XM_005269029.4	5367	Intron			XP_005269086.1
XM_005269032.3	5367	Intron			XP_005269089.1
XM_006719504.3	5367	Intron			XP_006719567.1
XM_006719505.3	5367	Intron			XP_006719568.1
XM_006719506.3	5367	Intron			XP_006719569.1
XM_006719507.3	5367	UTR 3			XP_006719570.1
XM_006719508.3	5367	Intron			XP_006719571.1
XM_006719509.3	5367	Intron			XP_006719572.1
XM_006719510.3	5367	Intron			XP_006719573.1
XM_006719512.3	5367	Intron			XP_006719575.1
XM_006719513.3	5367	Intron			XP_006719576.1
XM_006719514.3	5367	UTR 3			XP_006719577.1
XM_011538571.2	5367	Intron			XP_011536873.1
XM_017019651.1	5367	Intron			XP_016875140.1
XM_017019652.1	5367	Intron			XP_016875141.1
XM_017019653.1	5367	UTR 3			XP_016875142.1
XM_017019654.1	5367	UTR 3			XP_016875143.1
XM_017019655.1	5367	Intron			XP_016875144.1
XM_017019656.1	5367	Intron			XP_016875145.1
XM_017019657.1	5367	Intron			XP_016875146.1
XM_017019658.1	5367	UTR 3			XP_016875147.1
XM_017019659.1	5367	Intron			XP_016875148.1
XM_017019660.1	5367	Intron			XP_016875149.1
XM_017019661.1	5367	Intron			XP_016875150.1
XM_017019662.1	5367	Intron			XP_016875151.1
XM_017019663.1	5367	Intron			XP_016875152.1
XM_017019664.1	5367	Intron			XP_016875153.1
XM_017019665.1	5367	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	5367	UTR 3			NP_001151.1
NM_013229.2	5367	UTR 3			NP_037361.1
NM_181861.1	5367	UTR 3			NP_863651.1
NM_181868.1	5367	UTR 3			NP_863658.1
NM_181869.1	5367	UTR 3			NP_863659.1
XM_017019250.1	5367	Intron			XP_016874739.1

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