Product Details

SNP ID
rs80100531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:63242593 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCTTTTCATTGACATGGTAGAGA[A/G]GAAATGGATCAAATCCACCAATGAA
Phenotype
MIM: 605737 MIM: 612873
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BIRC7 PubMed Links

Gene Details

Gene
BIRC7
Gene Name
baculoviral IAP repeat containing 7
There are no transcripts associated with this gene.

Gene
LOC107985425
Gene Name
uncharacterized LOC107985425
There are no transcripts associated with this gene.

Gene
MIR3196
Gene Name
microRNA 3196
There are no transcripts associated with this gene.

Gene
NKAIN4
Gene Name
Na+/K+ transporting ATPase interacting 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152864.3 1073 Missense Mutation CCT,CTT P188L NP_690603.3
XM_005260192.1 1073 Intron XP_005260249.1
XM_005260194.3 1073 Intron XP_005260251.1
XM_011528527.1 1073 Missense Mutation CCT,CTT P188L XP_011526829.1
XM_011528528.2 1073 Missense Mutation CCT,CTT P126L XP_011526830.1
XM_011528529.2 1073 Missense Mutation CCT,CTT P126L XP_011526831.1
XM_017027636.1 1073 Missense Mutation CCT,CTT P126L XP_016883125.1
XM_017027637.1 1073 Missense Mutation CCT,CTT P126L XP_016883126.1
XM_017027638.1 1073 Missense Mutation CCT,CTT P126L XP_016883127.1
XM_017027639.1 1073 Missense Mutation CCT,CTT P126L XP_016883128.1

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