Product Details

SNP ID
rs148408896
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31142638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCTGGAGCATCTGTCAAGGTTG[C/T]CTCCTTGACAAACAGCTTCCTCTTT
Phenotype
MIM: 605310 MIM: 613525 MIM: 613526
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CCHCR1 PubMed Links

Gene Details

Gene
CCHCR1
Gene Name
coiled-coil alpha-helical rod protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105563.1 2506 Missense Mutation GAC,GGC D821G NP_001099033.1
NM_001105564.1 2506 Missense Mutation GAC,GGC D857G NP_001099034.1
NM_019052.3 2506 Missense Mutation GAC,GGC D768G NP_061925.2
XM_011514702.2 2506 Missense Mutation GAC,GGC D830G XP_011513004.1
XM_011514703.1 2506 Missense Mutation GAC,GGC D768G XP_011513005.1
XM_011514704.2 2506 Missense Mutation GAC,GGC D732G XP_011513006.1
XM_011514705.1 2506 Missense Mutation GAC,GGC D732G XP_011513007.1
XM_017010961.1 2506 Missense Mutation GAC,GGC D866G XP_016866450.1
XM_017010962.1 2506 Missense Mutation GAC,GGC D768G XP_016866451.1
XM_017010963.1 2506 Missense Mutation GAC,GGC D768G XP_016866452.1
XM_017010964.1 2506 Missense Mutation GAC,GGC D768G XP_016866453.1
XM_017010965.1 2506 Missense Mutation GAC,GGC D768G XP_016866454.1
XM_017010966.1 2506 Missense Mutation GAC,GGC D768G XP_016866455.1
XM_017010967.1 2506 Missense Mutation GAC,GGC D768G XP_016866456.1
XM_017010968.1 2506 Missense Mutation GAC,GGC D768G XP_016866457.1
XM_017010969.1 2506 Missense Mutation GAC,GGC D732G XP_016866458.1
XM_017010970.1 2506 Missense Mutation GAC,GGC D492G XP_016866459.1
Gene
PSORS1C1
Gene Name
psoriasis susceptibility 1 candidate 1
There are no transcripts associated with this gene.

Gene
PSORS1C2
Gene Name
psoriasis susceptibility 1 candidate 2
There are no transcripts associated with this gene.

View Full Product Details