Product Details

SNP ID
rs201743940
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:132750906 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAAGCACTATGGCTCTGACTATT[C/T]CCCGAATGAGCTGCTGAGGATGGAG
Phenotype
MIM: 608418
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCNI2 PubMed Links

Gene Details

Gene
CCNI2
Gene Name
cyclin I family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039780.3 780 Missense Mutation TCC,TTC S228F NP_001034869.1
NM_001287252.1 780 Missense Mutation TCC,TTC S228F NP_001274181.1
NM_001287253.1 780 Missense Mutation TCC,TTC S229F NP_001274182.1
XM_017009725.1 780 Missense Mutation TCC,TTC S229F XP_016865214.1
Gene
SEPT8
Gene Name
septin 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098811.1 780 UTR 3 NP_001092281.1
NM_001098812.1 780 Intron NP_001092282.1
NM_001098813.1 780 Intron NP_001092283.1
NM_001300798.1 780 Intron NP_001287727.1
NM_001300799.1 780 Intron NP_001287728.1
NM_015146.1 780 Intron NP_055961.1
XM_005271927.2 780 UTR 3 XP_005271984.1
XM_005271928.2 780 UTR 3 XP_005271985.1
XM_005271931.3 780 UTR 3 XP_005271988.1
XM_011543288.1 780 UTR 3 XP_011541590.1
XM_017009254.1 780 UTR 3 XP_016864743.1
XM_017009255.1 780 UTR 3 XP_016864744.1
XM_017009256.1 780 UTR 3 XP_016864745.1
XM_017009257.1 780 UTR 3 XP_016864746.1
XM_017009258.1 780 Intron XP_016864747.1
XM_017009259.1 780 Intron XP_016864748.1
XM_017009260.1 780 Intron XP_016864749.1
XM_017009261.1 780 Intron XP_016864750.1

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