Product Details

SNP ID
rs144128901
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:2930854 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCTCAGCTACTCAGCCTTGAGC[A/G]TCTGTGCCGGGTAACTCAGCTTCTG
Phenotype
MIM: 102680 MIM: 610977 MIM: 611526
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ADD1 PubMed Links

Gene Details

Gene
ADD1
Gene Name
adducin 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001119.4 1566 Intron NP_001110.2
NM_001286645.1 1566 Intron NP_001273574.1
NM_014189.3 1566 Intron NP_054908.2
NM_014190.3 1566 Intron NP_054909.2
NM_176801.2 1566 Intron NP_789771.1
XM_005247933.2 1566 Intron XP_005247990.1
XM_005247934.2 1566 Intron XP_005247991.1
XM_005247935.2 1566 Intron XP_005247992.1
XM_005247936.2 1566 Intron XP_005247993.1
XM_005247937.2 1566 Intron XP_005247994.1
XM_017007703.1 1566 Intron XP_016863192.1
XM_017007704.1 1566 Intron XP_016863193.1
XM_017007705.1 1566 Intron XP_016863194.1
XM_017007706.1 1566 Intron XP_016863195.1
XM_017007707.1 1566 Intron XP_016863196.1
XM_017007708.1 1566 Intron XP_016863197.1
XM_017007709.1 1566 Intron XP_016863198.1
XM_017007710.1 1566 Intron XP_016863199.1
Gene
MFSD10
Gene Name
major facilitator superfamily domain containing 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001120.4 1566 Missense Mutation ACG,ATG T451M NP_001111.3
NM_001146069.1 1566 Missense Mutation ACG,ATG T451M NP_001139541.1
XM_005247927.3 1566 UTR 3 XP_005247984.1
Gene
NOP14
Gene Name
NOP14 nucleolar protein
There are no transcripts associated with this gene.

Gene
NOP14-AS1
Gene Name
NOP14 antisense RNA 1
There are no transcripts associated with this gene.

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