Product Details

SNP ID

rs142230441

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98732501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTAAGAAAATACACGTGTCCCCT[C/G]ACTTCAAAACATATGTGACTGTGGA

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	7368	Intron			NP_001190994.1
NM_001204066.1	7368	Intron			NP_001190995.1
NM_001204067.1	7368	Intron			NP_001190996.1
NM_001204068.1	7368	Intron			NP_001190997.1
NM_001204069.1	7368	Intron			NP_001190998.1
NM_001204070.1	7368	Intron			NP_001190999.1
NM_001204079.1	7368	Intron			NP_001191008.1
NM_001204080.1	7368	Intron			NP_001191009.1
NM_001204081.1	7368	Intron			NP_001191010.1
NM_020140.3	7368	Intron			NP_064525.1
NM_152788.4	7368	Intron			NP_690001.3
NM_181670.3	7368	Intron			NP_858056.2
XM_005269028.4	7368	Intron			XP_005269085.1
XM_005269029.4	7368	Intron			XP_005269086.1
XM_005269032.3	7368	Intron			XP_005269089.1
XM_006719504.3	7368	Intron			XP_006719567.1
XM_006719505.3	7368	Intron			XP_006719568.1
XM_006719506.3	7368	Intron			XP_006719569.1
XM_006719507.3	7368	Intron			XP_006719570.1
XM_006719508.3	7368	Intron			XP_006719571.1
XM_006719509.3	7368	Intron			XP_006719572.1
XM_006719510.3	7368	Intron			XP_006719573.1
XM_006719512.3	7368	Intron			XP_006719575.1
XM_006719513.3	7368	Intron			XP_006719576.1
XM_006719514.3	7368	Intron			XP_006719577.1
XM_011538571.2	7368	Intron			XP_011536873.1
XM_017019651.1	7368	Intron			XP_016875140.1
XM_017019652.1	7368	Intron			XP_016875141.1
XM_017019653.1	7368	UTR 3			XP_016875142.1
XM_017019654.1	7368	Intron			XP_016875143.1
XM_017019655.1	7368	Intron			XP_016875144.1
XM_017019656.1	7368	Intron			XP_016875145.1
XM_017019657.1	7368	Intron			XP_016875146.1
XM_017019658.1	7368	Intron			XP_016875147.1
XM_017019659.1	7368	Intron			XP_016875148.1
XM_017019660.1	7368	Intron			XP_016875149.1
XM_017019661.1	7368	Intron			XP_016875150.1
XM_017019662.1	7368	Intron			XP_016875151.1
XM_017019663.1	7368	Intron			XP_016875152.1
XM_017019664.1	7368	Intron			XP_016875153.1
XM_017019665.1	7368	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	7368	Missense Mutation	CAC,GAC	H1174D	NP_001151.1
NM_013229.2	7368	Missense Mutation	CAC,GAC	H1217D	NP_037361.1
NM_181861.1	7368	Missense Mutation	CAC,GAC	H1228D	NP_863651.1
NM_181868.1	7368	Missense Mutation	CAC,GAC	H1185D	NP_863658.1
NM_181869.1	7368	UTR 3			NP_863659.1
XM_017019250.1	7368	Intron			XP_016874739.1

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