Product Details

SNP ID

rs139599780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56064349 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTTACCGCTGCTGCCCCTGCTGT[A/C]GCTCCTGGTCGGCGCGTGGCTCAAG

Phenotype

MIM: 104613 MIM: 607940

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCT6A PubMed Links

Gene Details

Gene

CCT6A

Gene Name

chaperonin containing TCP1 subunit 6A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009186.1	126	Intron			NP_001009186.1
NM_001762.3	126	Intron			NP_001753.1

Gene

SNORA15

Gene Name

small nucleolar RNA, H/ACA box 15

There are no transcripts associated with this gene.

Gene

SUMF2

Gene Name

sulfatase modifying factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042469.1	126	Missense Mutation	TAG,TCG	*32S	NP_001035934.2
NM_001042470.1	126	Missense Mutation	TAG,TCG	*32S	NP_001035935.2
NM_001130069.2	126	Missense Mutation	TAG,TCG	*32S	NP_001123541.1
NM_001146333.1	126	UTR 5			NP_001139805.1
NM_015411.2	126	Missense Mutation	TAG,TCG	*32S	NP_056226.2
XM_011515254.2	126	Nonsense Mutation	TAG,TCG	*32S	XP_011513556.1
XM_017011939.1	126	Nonsense Mutation	TAG,TCG	*32S	XP_016867428.1
XM_017011940.1	126	Nonsense Mutation	TAG,TCG	*32S	XP_016867429.1

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