Product Details

SNP ID

rs140483488

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:116426044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACTCCGCAGGAGGCTGGAGCAG[C/T]GGCTACTCACCCTCTCCAGTCGCCG

Phenotype

MIM: 612856

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ASTN2 PubMed Links

Additional Information

For this assay, SNP(s) [rs368407220] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ASTN2

Gene Name

astrotactin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184734.1	1219	Missense Mutation	CAC,CGC	H328R	NP_001171663.1
NM_001184735.1	1219	Intron			NP_001171664.1
NM_014010.4	1219	Missense Mutation	CAC,CGC	H1225R	NP_054729.3
NM_198186.3	1219	Missense Mutation	CAC,CGC	H377R	NP_937829.3
NM_198187.3	1219	Missense Mutation	CAC,CGC	H328R	NP_937830.3
NM_198188.2	1219	Missense Mutation	CAC,CGC	H328R	NP_937831.1

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