Product Details

SNP ID

rs144456902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:11679330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGTGGACCTCTCTCTGGGCCGC[C/T]AGGCTTTCAGCTCCATCCCTGCCCT

Phenotype

MIM: 603032

Polymorphism

C/T, 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	2727	Intron			NP_003489.1
XM_017023741.1	2727	Intron			XP_016879230.1
XM_017023742.1	2727	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	2727	Silent Mutation	CTA,CTG	L941L	NP_001290376.1
NM_001324022.1	2727	Silent Mutation	CTA,CTG	L700L	NP_001310951.1
NM_001324024.1	2727	Silent Mutation	CTA,CTG	L462L	NP_001310953.1
NM_001324025.1	2727	Silent Mutation	CTA,CTG	L462L	NP_001310954.1
NM_015914.6	2727	Silent Mutation	CTA,CTG	L914L	NP_056998.4
XM_011522515.2	2727	Silent Mutation	CTA,CTG	L954L	XP_011520817.1
XM_011522516.2	2727	Silent Mutation	CTA,CTG	L740L	XP_011520818.1
XM_017023268.1	2727	Silent Mutation	CTA,CTG	L953L	XP_016878757.1

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