Product Details

SNP ID
rs1128978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75355958 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAACAGGGACAGCACTTGGAAGGGA[A/G]AAAAGGTGAGCTTCAGGCGGTTGTC
Phenotype
MIM: 154580 MIM: 608844
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MAN2C1 PubMed Links

Gene Details

Gene
MAN2C1
Gene Name
mannosidase alpha class 2C member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256494.1 3192 Missense Mutation TCT,TTT S1041F NP_001243423.1
NM_001256495.1 3192 Missense Mutation TCT,TTT S1001F NP_001243424.1
NM_001256496.1 3192 Missense Mutation TCT,TTT S925F NP_001243425.1
NM_006715.3 3192 Missense Mutation TCT,TTT S1024F NP_006706.2
XM_005254384.2 3192 Missense Mutation TCT,TTT S1032F XP_005254441.1
XM_017022186.1 3192 Missense Mutation TCT,TTT S1047F XP_016877675.1
XM_017022187.1 3192 Missense Mutation TCT,TTT S1016F XP_016877676.1
XM_017022188.1 3192 Missense Mutation TCT,TTT S902F XP_016877677.1
Gene
MIR631
Gene Name
microRNA 631
There are no transcripts associated with this gene.

Gene
NEIL1
Gene Name
nei like DNA glycosylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256552.1 3192 Intron NP_001243481.1
NM_024608.3 3192 Intron NP_078884.2
XM_005254659.4 3192 Intron XP_005254716.1
XM_006720677.3 3192 Intron XP_006720740.1
XM_006720678.3 3192 Intron XP_006720741.1
XM_006720679.3 3192 Intron XP_006720742.1
XM_006720680.1 3192 Intron XP_006720743.1
XM_006720681.1 3192 Intron XP_006720744.1
XM_011522001.2 3192 Intron XP_011520303.2
XM_011522002.1 3192 Intron XP_011520304.1
XM_011522003.2 3192 Intron XP_011520305.1
XM_011522004.2 3192 Intron XP_011520306.1
XM_011522005.1 3192 Intron XP_011520307.1
XM_011522006.1 3192 Intron XP_011520308.1
XM_011522007.1 3192 Intron XP_011520309.1
XM_011522008.1 3192 Intron XP_011520310.1
XM_017022566.1 3192 Intron XP_016878055.1
XM_017022567.1 3192 Intron XP_016878056.1
XM_017022568.1 3192 Intron XP_016878057.1

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