Product Details

SNP ID

rs11831594

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98736137 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACAGTAAGGACTTCACTTTTGACT[C/G]TGGGAGCCAGTGTAGGAGTTTTGAG

Phenotype

MIM: 607815 MIM: 602233

Polymorphism

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

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