Product Details

SNP ID

rs200333664

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151054046 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGTCGGAGAAGTAGGGGTGCTGC[A/G]GGGCCTCTTCTGCTGAGATACGCTG

Phenotype

MIM: 605464 MIM: 611741 MIM: 123831 MIM: 109280

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCB8 PubMed Links

Gene Details

Gene

ABCB8

Gene Name

ATP binding cassette subfamily B member 8

There are no transcripts associated with this gene.

Gene

ASIC3

Gene Name

acid sensing ion channel subunit 3

There are no transcripts associated with this gene.

Gene

CDK5

Gene Name

cyclin dependent kinase 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164410.2	863	Missense Mutation	CCG,CTG	P249L	NP_001157882.1
NM_004935.3	863	Missense Mutation	CCG,CTG	P281L	NP_004926.1

Gene

SLC4A2

Gene Name

solute carrier family 4 member 2

There are no transcripts associated with this gene.

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