Product Details

SNP ID

rs17028653

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98731855 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGGACTTGGCTACAGCCCTTGCTA[C/T]GTTTGAGATGTTCAGTATTTGTTTA

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	8014	Intron			NP_001190994.1
NM_001204066.1	8014	Intron			NP_001190995.1
NM_001204067.1	8014	Intron			NP_001190996.1
NM_001204068.1	8014	Intron			NP_001190997.1
NM_001204069.1	8014	Intron			NP_001190998.1
NM_001204070.1	8014	Intron			NP_001190999.1
NM_001204079.1	8014	Intron			NP_001191008.1
NM_001204080.1	8014	Intron			NP_001191009.1
NM_001204081.1	8014	Intron			NP_001191010.1
NM_020140.3	8014	Intron			NP_064525.1
NM_152788.4	8014	Intron			NP_690001.3
NM_181670.3	8014	Intron			NP_858056.2
XM_005269028.4	8014	Intron			XP_005269085.1
XM_005269029.4	8014	Intron			XP_005269086.1
XM_005269032.3	8014	Intron			XP_005269089.1
XM_006719504.3	8014	Intron			XP_006719567.1
XM_006719505.3	8014	Intron			XP_006719568.1
XM_006719506.3	8014	Intron			XP_006719569.1
XM_006719507.3	8014	Intron			XP_006719570.1
XM_006719508.3	8014	Intron			XP_006719571.1
XM_006719509.3	8014	Intron			XP_006719572.1
XM_006719510.3	8014	Intron			XP_006719573.1
XM_006719512.3	8014	Intron			XP_006719575.1
XM_006719513.3	8014	Intron			XP_006719576.1
XM_006719514.3	8014	Intron			XP_006719577.1
XM_011538571.2	8014	Intron			XP_011536873.1
XM_017019651.1	8014	Intron			XP_016875140.1
XM_017019652.1	8014	Intron			XP_016875141.1
XM_017019653.1	8014	UTR 3			XP_016875142.1
XM_017019654.1	8014	Intron			XP_016875143.1
XM_017019655.1	8014	Intron			XP_016875144.1
XM_017019656.1	8014	Intron			XP_016875145.1
XM_017019657.1	8014	Intron			XP_016875146.1
XM_017019658.1	8014	Intron			XP_016875147.1
XM_017019659.1	8014	Intron			XP_016875148.1
XM_017019660.1	8014	Intron			XP_016875149.1
XM_017019661.1	8014	Intron			XP_016875150.1
XM_017019662.1	8014	Intron			XP_016875151.1
XM_017019663.1	8014	Intron			XP_016875152.1
XM_017019664.1	8014	Intron			XP_016875153.1
XM_017019665.1	8014	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	8014	Intron			NP_001151.1
NM_013229.2	8014	Intron			NP_037361.1
NM_181861.1	8014	Intron			NP_863651.1
NM_181868.1	8014	Intron			NP_863658.1
NM_181869.1	8014	Intron			NP_863659.1
XM_017019250.1	8014	Intron			XP_016874739.1

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