Product Details

SNP ID
rs189044396
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81899491 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGGTGCCTTGACCATTCATGTG[A/T]CCTTTTTGGCATCACAGATCAAGTG
Phenotype
MIM: 604171 MIM: 614534 MIM: 607996 MIM: 602679
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ALYREF PubMed Links

Gene Details

Gene
ALYREF
Gene Name
Aly/REF export factor
There are no transcripts associated with this gene.

Gene
ANAPC11
Gene Name
anaphase promoting complex subunit 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002244.2 521 Missense Mutation GAC,GTC D120V NP_001002244.1
NM_001002245.2 521 Intron NP_001002245.1
NM_001002246.2 521 Intron NP_001002246.1
NM_001002247.2 521 Intron NP_001002247.1
NM_001002248.2 521 Intron NP_001002248.1
NM_001002249.2 521 Intron NP_001002249.1
NM_001289414.1 521 Intron NP_001276343.1
NM_001289415.1 521 Intron NP_001276344.1
NM_001289416.1 521 Intron NP_001276345.1
NM_001289417.1 521 Intron NP_001276346.1
NM_001289418.1 521 Intron NP_001276347.1
NM_001289419.1 521 Intron NP_001276348.1
NM_001289420.1 521 Intron NP_001276349.1
NM_016476.11 521 Intron NP_057560.8
Gene
NPB
Gene Name
neuropeptide B
There are no transcripts associated with this gene.

Gene
PCYT2
Gene Name
phosphate cytidylyltransferase 2, ethanolamine
There are no transcripts associated with this gene.

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