Product Details

SNP ID

rs12364

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31143009 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCACTGCTGCTGCTACAGGTGCAGA[A/T]GCTGAACACTCTGGAGGCCTGGGGC

Phenotype

MIM: 605310 MIM: 613525 MIM: 613526

Polymorphism

A/T, Transversion 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	2381	Silent Mutation	GCA,GCT	A779A	NP_001099033.1
NM_001105564.1	2381	Silent Mutation	GCA,GCT	A815A	NP_001099034.1
NM_019052.3	2381	Silent Mutation	GCA,GCT	A726A	NP_061925.2
XM_011514702.2	2381	Silent Mutation	GCA,GCT	A788A	XP_011513004.1
XM_011514703.1	2381	Silent Mutation	GCA,GCT	A726A	XP_011513005.1
XM_011514704.2	2381	Silent Mutation	GCA,GCT	A690A	XP_011513006.1
XM_011514705.1	2381	Silent Mutation	GCA,GCT	A690A	XP_011513007.1
XM_017010961.1	2381	Silent Mutation	GCA,GCT	A824A	XP_016866450.1
XM_017010962.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866451.1
XM_017010963.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866452.1
XM_017010964.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866453.1
XM_017010965.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866454.1
XM_017010966.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866455.1
XM_017010967.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866456.1
XM_017010968.1	2381	Silent Mutation	GCA,GCT	A726A	XP_016866457.1
XM_017010969.1	2381	Silent Mutation	GCA,GCT	A690A	XP_016866458.1
XM_017010970.1	2381	Silent Mutation	GCA,GCT	A450A	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.

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