Product Details

SNP ID
rs1043830
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:19336624 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGAGGAAGTCACCCAGCTGTTT[C/T]TCAGTCCCAGAGGCCGGTGGCTGGT
Phenotype
MIM: 614144 MIM: 607263
Polymorphism
C/T, Transition 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 4573 Intron NP_001230402.1
NM_001243475.2 4573 UTR 3 NP_001230404.1
NM_001321214.1 4573 Intron NP_001308143.1
NM_001321215.1 4573 Intron NP_001308144.1
NM_001321216.1 4573 Intron NP_001308145.1
NM_001321217.1 4573 Intron NP_001308146.1
NM_001321218.1 4573 UTR 3 NP_001308147.1
NM_001321219.1 4573 UTR 3 NP_001308148.1
NM_015681.4 4573 Intron NP_056496.1
XM_005256607.2 4573 Intron XP_005256664.1
XM_005256610.1 4573 Intron XP_005256667.1
XM_017024452.1 4573 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 4573 UTR 3 NP_001096134.1
NM_014964.4 4573 UTR 3 NP_055779.2
NM_148921.3 4573 UTR 3 NP_683723.2
Gene
MIR1180
Gene Name
microRNA 1180
There are no transcripts associated with this gene.

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