Product Details

SNP ID
rs144830055
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:108929783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTACCAGATGAAGACTTTTTCA[A/G]CCTTATTTTACGGTCCCAGGGAAAG
Phenotype
MIM: 609245
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CLCC1 PubMed Links

Gene Details

Gene
CLCC1
Gene Name
chloride channel CLIC like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048210.2 2394 UTR 3 NP_001041675.1
NM_001278202.1 2394 UTR 3 NP_001265131.1
NM_001278203.1 2394 UTR 3 NP_001265132.1
NM_015127.4 2394 UTR 3 NP_055942.1
Gene
GPSM2
Gene Name
G-protein signaling modulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321038.1 2394 Missense Mutation AAC,AGC N633S NP_001307967.1
NM_001321039.1 2394 Missense Mutation AAC,AGC N633S NP_001307968.1
NM_013296.4 2394 Missense Mutation AAC,AGC N633S NP_037428.3
XM_006710589.2 2394 Missense Mutation AAC,AGC N614S XP_006710652.1
XM_011541301.2 2394 Missense Mutation AAC,AGC N633S XP_011539603.1
XM_011541302.2 2394 Missense Mutation AAC,AGC N633S XP_011539604.1
XM_011541303.2 2394 Intron XP_011539605.1
XM_017001097.1 2394 Missense Mutation AAC,AGC N633S XP_016856586.1
XM_017001098.1 2394 Missense Mutation AAC,AGC N633S XP_016856587.1

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