Product Details

SNP ID

rs11652712

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:19337659 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTCCAGGTCTCAGCGGCTTCCCGC[A/G]GAAGTTTCTCACAGAAGTCAGTGAC

Phenotype

MIM: 614144 MIM: 607263

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

B9D1 PubMed Links

Additional Information

For this assay, SNP(s) [rs78797942] are located under a primer 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

B9D1

Gene Name

B9 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243473.2	731	Intron			NP_001230402.1
NM_001243475.2	731	UTR 3			NP_001230404.1
NM_001321214.1	731	Intron			NP_001308143.1
NM_001321215.1	731	Intron			NP_001308144.1
NM_001321216.1	731	Intron			NP_001308145.1
NM_001321217.1	731	Intron			NP_001308146.1
NM_001321218.1	731	UTR 3			NP_001308147.1
NM_001321219.1	731	UTR 3			NP_001308148.1
NM_015681.4	731	Intron			NP_056496.1
XM_005256607.2	731	Intron			XP_005256664.1
XM_005256610.1	731	Intron			XP_005256667.1
XM_017024452.1	731	Intron			XP_016879941.1

Gene

EPN2

Gene Name

epsin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102664.1	731	Intron			NP_001096134.1
NM_014964.4	731	Intron			NP_055779.2
NM_148921.3	731	Intron			NP_683723.2

Gene

MIR1180

Gene Name

microRNA 1180

There are no transcripts associated with this gene.

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