Product Details

SNP ID

rs201584289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103355731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGACACTGGCCTGGCCCCACCAGC[A/C]CTCTGGGATTTGGCTGCAGATAAGC

Phenotype

MIM: 154365 MIM: 604943

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PSMC2 PubMed Links

Gene Details

Gene

PSMC2

Gene Name

proteasome 26S subunit, ATPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204453.1	537	Silent Mutation	GCA,GCC	A76A	NP_001191382.1
NM_002803.3	537	Silent Mutation	GCA,GCC	A76A	NP_002794.1
XM_005250505.1	537	Silent Mutation	GCA,GCC	A76A	XP_005250562.1

Gene

SLC26A5

Gene Name

solute carrier family 26 member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167962.1	537	Intron			NP_001161434.1
NM_001321787.1	537	Intron			NP_001308716.1
NM_198999.2	537	Intron			NP_945350.1
NM_206883.2	537	Intron			NP_996766.1
NM_206884.2	537	Intron			NP_996767.1
NM_206885.2	537	Intron			NP_996768.1
XM_011516170.2	537	Intron			XP_011514472.1

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