Product Details

SNP ID

rs17227606

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98732853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTGGTAAAATTCTGTCTTGATG[C/T]ATTCAAAATGGTTGACATAATTAAT

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	7016	Intron			NP_001190994.1
NM_001204066.1	7016	Intron			NP_001190995.1
NM_001204067.1	7016	Intron			NP_001190996.1
NM_001204068.1	7016	Intron			NP_001190997.1
NM_001204069.1	7016	Intron			NP_001190998.1
NM_001204070.1	7016	Intron			NP_001190999.1
NM_001204079.1	7016	Intron			NP_001191008.1
NM_001204080.1	7016	Intron			NP_001191009.1
NM_001204081.1	7016	Intron			NP_001191010.1
NM_020140.3	7016	Intron			NP_064525.1
NM_152788.4	7016	Intron			NP_690001.3
NM_181670.3	7016	Intron			NP_858056.2
XM_005269028.4	7016	Intron			XP_005269085.1
XM_005269029.4	7016	Intron			XP_005269086.1
XM_005269032.3	7016	Intron			XP_005269089.1
XM_006719504.3	7016	Intron			XP_006719567.1
XM_006719505.3	7016	Intron			XP_006719568.1
XM_006719506.3	7016	Intron			XP_006719569.1
XM_006719507.3	7016	Intron			XP_006719570.1
XM_006719508.3	7016	Intron			XP_006719571.1
XM_006719509.3	7016	Intron			XP_006719572.1
XM_006719510.3	7016	Intron			XP_006719573.1
XM_006719512.3	7016	Intron			XP_006719575.1
XM_006719513.3	7016	Intron			XP_006719576.1
XM_006719514.3	7016	Intron			XP_006719577.1
XM_011538571.2	7016	Intron			XP_011536873.1
XM_017019651.1	7016	Intron			XP_016875140.1
XM_017019652.1	7016	Intron			XP_016875141.1
XM_017019653.1	7016	UTR 3			XP_016875142.1
XM_017019654.1	7016	Intron			XP_016875143.1
XM_017019655.1	7016	Intron			XP_016875144.1
XM_017019656.1	7016	Intron			XP_016875145.1
XM_017019657.1	7016	Intron			XP_016875146.1
XM_017019658.1	7016	Intron			XP_016875147.1
XM_017019659.1	7016	Intron			XP_016875148.1
XM_017019660.1	7016	Intron			XP_016875149.1
XM_017019661.1	7016	Intron			XP_016875150.1
XM_017019662.1	7016	Intron			XP_016875151.1
XM_017019663.1	7016	Intron			XP_016875152.1
XM_017019664.1	7016	Intron			XP_016875153.1
XM_017019665.1	7016	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	7016	UTR 3			NP_001151.1
NM_013229.2	7016	UTR 3			NP_037361.1
NM_181861.1	7016	UTR 3			NP_863651.1
NM_181868.1	7016	UTR 3			NP_863658.1
NM_181869.1	7016	UTR 3			NP_863659.1
XM_017019250.1	7016	Intron			XP_016874739.1

View Full Product Details