Product Details

SNP ID
rs116672208
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:40577400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGGTGTCCCTTCCCTGCAGTCTT[C/T]TGAGCGGACGCATCTCGACGCTGAA
Phenotype
MIM: 606214
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SHKBP1 PubMed Links

Gene Details

Gene
SHKBP1
Gene Name
SH3KBP1 binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138392.3 194 Silent Mutation CTG,TTG L49L NP_612401.2
XM_006723474.1 194 Silent Mutation CTG,TTG L49L XP_006723537.1
XM_006723475.1 194 Silent Mutation CTG,TTG L49L XP_006723538.1
XM_011527492.1 194 Silent Mutation CTG,TTG L49L XP_011525794.1
XM_011527493.1 194 UTR 5 XP_011525795.1
XM_017027473.1 194 Silent Mutation CTG,TTG L49L XP_016882962.1
XM_017027474.1 194 UTR 5 XP_016882963.1
Gene
SPTBN4
Gene Name
spectrin beta, non-erythrocytic 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020971.2 194 Intron NP_066022.2
NM_025213.2 194 Intron NP_079489.2
XM_011527173.2 194 Intron XP_011525475.1
XM_017027049.1 194 Intron XP_016882538.1
XM_017027050.1 194 Intron XP_016882539.1
XM_017027051.1 194 Intron XP_016882540.1
XM_017027052.1 194 Intron XP_016882541.1

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