Product Details

SNP ID

rs191183857

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:68054036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTACAATGTACCAGATGTCATGA[C/T]TATCATAAACCAGAGGTCCACCAGA

Phenotype

MIM: 610892

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC550113 PubMed Links

Gene Details

Gene

LOC550113

Gene Name

uncharacterized LOC550113

There are no transcripts associated with this gene.

Gene

SYT14P1

Gene Name

synaptotagmin 14 pseudogene 1

There are no transcripts associated with this gene.

Gene

TMPRSS11F

Gene Name

transmembrane protease, serine 11F

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207407.2	1239	Missense Mutation	AAT,AGT	N397S	NP_997290.2
XM_011531935.1	1239	Intron			XP_011530237.1

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