Product Details

SNP ID

rs142898906

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:11679504 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCATAGAGGGCCTGCAGCTGCTC[A/G]CTGTGTGCGTGGAGCAGGCTGTGCT

Phenotype

MIM: 603032

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SNN PubMed Links

Gene Details

Gene

SNN

Gene Name

stannin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003498.5	2553	Intron			NP_003489.1
XM_017023741.1	2553	Intron			XP_016879230.1
XM_017023742.1	2553	Intron			XP_016879231.1

Gene

TXNDC11

Gene Name

thioredoxin domain containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303447.1	2553	Silent Mutation	AGC,AGT	S883S	NP_001290376.1
NM_001324022.1	2553	Silent Mutation	AGC,AGT	S642S	NP_001310951.1
NM_001324024.1	2553	Silent Mutation	AGC,AGT	S404S	NP_001310953.1
NM_001324025.1	2553	Silent Mutation	AGC,AGT	S404S	NP_001310954.1
NM_015914.6	2553	Silent Mutation	AGC,AGT	S856S	NP_056998.4
XM_011522515.2	2553	Silent Mutation	AGC,AGT	S896S	XP_011520817.1
XM_011522516.2	2553	Silent Mutation	AGC,AGT	S682S	XP_011520818.1
XM_017023268.1	2553	Silent Mutation	AGC,AGT	S895S	XP_016878757.1

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