Product Details

SNP ID

rs201996831

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:16015625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGGTCTGCTGGACGTGTTCTGT[A/G]TGCGGGTGACGCCGTGCCCGGATAG

Phenotype

MIM: 602024 MIM: 610692

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1orf64 PubMed Links

Gene Details

Gene

C1orf64

Gene Name

chromosome 1 open reading frame 64

There are no transcripts associated with this gene.

Gene

CLCNKA

Gene Name

chloride voltage-gated channel Ka

There are no transcripts associated with this gene.

Gene

HSPB7

Gene Name

heat shock protein family B (small) member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014424.4	1295	Silent Mutation	CAC,CAT	H156H	NP_055239.1
XM_011541249.1	1295	Silent Mutation	CAC,CAT	H249H	XP_011539551.1
XM_011541250.2	1295	Silent Mutation	CAC,CAT	H248H	XP_011539552.1

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