Product Details
- SNP ID
-
rs141143208
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.15:49328596 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GTATTCTTCTTCCTCAAAGTTGTAG[C/T]TGTCTGTTGATGATGGTGATGATGA
- Phenotype
-
MIM: 137028
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
FAM227B
PubMed Links
Gene Details
- Gene
- FAM227B
- Gene Name
- family with sequence similarity 227 member B
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_152647.2 |
1843 |
Missense Mutation |
AAC,AGC |
N500S |
NP_689860.2 |
XM_005254213.3 |
1843 |
Missense Mutation |
AAC,AGC |
N525S |
XP_005254270.1 |
XM_005254214.3 |
1843 |
Missense Mutation |
AAC,AGC |
N525S |
XP_005254271.1 |
XM_005254215.3 |
1843 |
Missense Mutation |
AAC,AGC |
N513S |
XP_005254272.1 |
XM_005254216.3 |
1843 |
Missense Mutation |
AAC,AGC |
N491S |
XP_005254273.1 |
XM_005254219.3 |
1843 |
UTR 3 |
|
|
XP_005254276.1 |
XM_005254220.3 |
1843 |
Intron |
|
|
XP_005254277.1 |
XM_006720423.2 |
1843 |
Missense Mutation |
AAC,AGC |
N525S |
XP_006720486.1 |
XM_006720424.2 |
1843 |
Missense Mutation |
AAC,AGC |
N500S |
XP_006720487.1 |
XM_006720426.2 |
1843 |
Missense Mutation |
AAC,AGC |
N478S |
XP_006720489.1 |
XM_006720427.3 |
1843 |
Missense Mutation |
AAC,AGC |
N442S |
XP_006720490.1 |
XM_011521319.2 |
1843 |
Missense Mutation |
AAC,AGC |
N525S |
XP_011519621.1 |
XM_011521320.1 |
1843 |
Missense Mutation |
AAC,AGC |
N391S |
XP_011519622.1 |
XM_011521321.2 |
1843 |
Intron |
|
|
XP_011519623.1 |
XM_011521322.1 |
1843 |
Missense Mutation |
AAC,AGC |
N379S |
XP_011519624.1 |
XM_011521324.1 |
1843 |
Intron |
|
|
XP_011519626.1 |
XM_011521325.2 |
1843 |
Intron |
|
|
XP_011519627.1 |
XM_011521326.1 |
1843 |
Intron |
|
|
XP_011519628.1 |
XM_017021990.1 |
1843 |
Missense Mutation |
AAC,AGC |
N444S |
XP_016877479.1 |
XM_017021991.1 |
1843 |
Missense Mutation |
AAC,AGC |
N442S |
XP_016877480.1 |
XM_017021992.1 |
1843 |
Missense Mutation |
AAC,AGC |
N425S |
XP_016877481.1 |
XM_017021993.1 |
1843 |
Missense Mutation |
AAC,AGC |
N419S |
XP_016877482.1 |
XM_017021994.1 |
1843 |
Missense Mutation |
AAC,AGC |
N411S |
XP_016877483.1 |
XM_017021995.1 |
1843 |
UTR 3 |
|
|
XP_016877484.1 |
XM_017021996.1 |
1843 |
Missense Mutation |
AAC,AGC |
N391S |
XP_016877485.1 |
- Gene
- GALK2
- Gene Name
- galactokinase 2
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