Product Details

SNP ID: rs202203012
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:34882973 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CATCTTCATCTACTTTCTGCTTTTT[A/C]TCTTTCTTTTCTTTGGTATCTATTT
Phenotype: MIM: 608994 MIM: 600772
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: ANKS1A PubMed Links

Gene Details

Gene: ANKS1A
Gene Name: ankyrin repeat and sterile alpha motif domain containing 1A

There are no transcripts associated with this gene.

Gene: LOC105375030
Gene Name: uncharacterized LOC105375030

There are no transcripts associated with this gene.

Gene: TAF11
Gene Name: TATA-box binding protein associated factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270488.1	783	Missense Mutation	GAG,GAT	E93D	NP_001257417.1
NM_005643.3	783	Missense Mutation	GAG,GAT	E93D	NP_005634.1
XM_011514827.2	783	Missense Mutation	GAG,GAT	E49D	XP_011513129.1

Gene: UHRF1BP1
Gene Name: UHRF1 binding protein 1

There are no transcripts associated with this gene.

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