Product Details

SNP ID

rs201029707

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:98732492 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAACCAATCTTAAGAAAATACAC[A/G]TGTCCCCTGACTTCAAAACATATGT

Phenotype

MIM: 607815 MIM: 602233

Polymorphism

A/G, 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	7377	Intron			NP_001190994.1
NM_001204066.1	7377	Intron			NP_001190995.1
NM_001204067.1	7377	Intron			NP_001190996.1
NM_001204068.1	7377	Intron			NP_001190997.1
NM_001204069.1	7377	Intron			NP_001190998.1
NM_001204070.1	7377	Intron			NP_001190999.1
NM_001204079.1	7377	Intron			NP_001191008.1
NM_001204080.1	7377	Intron			NP_001191009.1
NM_001204081.1	7377	Intron			NP_001191010.1
NM_020140.3	7377	Intron			NP_064525.1
NM_152788.4	7377	Intron			NP_690001.3
NM_181670.3	7377	Intron			NP_858056.2
XM_005269028.4	7377	Intron			XP_005269085.1
XM_005269029.4	7377	Intron			XP_005269086.1
XM_005269032.3	7377	Intron			XP_005269089.1
XM_006719504.3	7377	Intron			XP_006719567.1
XM_006719505.3	7377	Intron			XP_006719568.1
XM_006719506.3	7377	Intron			XP_006719569.1
XM_006719507.3	7377	Intron			XP_006719570.1
XM_006719508.3	7377	Intron			XP_006719571.1
XM_006719509.3	7377	Intron			XP_006719572.1
XM_006719510.3	7377	Intron			XP_006719573.1
XM_006719512.3	7377	Intron			XP_006719575.1
XM_006719513.3	7377	Intron			XP_006719576.1
XM_006719514.3	7377	Intron			XP_006719577.1
XM_011538571.2	7377	Intron			XP_011536873.1
XM_017019651.1	7377	Intron			XP_016875140.1
XM_017019652.1	7377	Intron			XP_016875141.1
XM_017019653.1	7377	UTR 3			XP_016875142.1
XM_017019654.1	7377	Intron			XP_016875143.1
XM_017019655.1	7377	Intron			XP_016875144.1
XM_017019656.1	7377	Intron			XP_016875145.1
XM_017019657.1	7377	Intron			XP_016875146.1
XM_017019658.1	7377	Intron			XP_016875147.1
XM_017019659.1	7377	Intron			XP_016875148.1
XM_017019660.1	7377	Intron			XP_016875149.1
XM_017019661.1	7377	Intron			XP_016875150.1
XM_017019662.1	7377	Intron			XP_016875151.1
XM_017019663.1	7377	Intron			XP_016875152.1
XM_017019664.1	7377	Intron			XP_016875153.1
XM_017019665.1	7377	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	7377	Missense Mutation	ATG,GTG	M1171V	NP_001151.1
NM_013229.2	7377	Missense Mutation	ATG,GTG	M1214V	NP_037361.1
NM_181861.1	7377	Missense Mutation	ATG,GTG	M1225V	NP_863651.1
NM_181868.1	7377	Missense Mutation	ATG,GTG	M1182V	NP_863658.1
NM_181869.1	7377	UTR 3			NP_863659.1
XM_017019250.1	7377	Intron			XP_016874739.1

View Full Product Details