Product Details

SNP ID

rs8065263

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:19342839 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTCCAGCTCCCAATAACAGGGTTCT[C/G]TCCTTGCCAAGGGAGGCTGGTGGCC

Phenotype

MIM: 614144 MIM: 607263

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

B9D1 PubMed Links

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		Intron			NP_001230402.1
NM_001243475.2		Intron			NP_001230404.1
NM_001321214.1		Intron			NP_001308143.1
NM_001321215.1		Intron			NP_001308144.1
NM_001321216.1		Intron			NP_001308145.1
NM_001321217.1		Intron			NP_001308146.1
NM_001321218.1		Intron			NP_001308147.1
NM_001321219.1		Intron			NP_001308148.1
NM_015681.4		Intron			NP_056496.1
XM_005256607.2		Intron			XP_005256664.1
XM_005256610.1		Intron			XP_005256667.1
XM_017024452.1		Intron			XP_016879941.1

Gene

EPN2

Gene Name

epsin 2

There are no transcripts associated with this gene.

Gene

MIR1180

Gene Name

microRNA 1180

There are no transcripts associated with this gene.

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