Product Details

SNP ID

rs11538184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24440870 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTTACGAGGTTGGAGAAAAAGTCAA[A/T]GTCCCCTCCTGGGCTGTCTTCATCA

Phenotype

MIM: 616162

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

KHNYN PubMed Links

Gene Details

Gene

KHNYN

Gene Name

KH and NYN domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290256.1	377	UTR 3			NP_001277185.1
NM_001290257.1	377	UTR 3			NP_001277186.1
NM_015299.2	377	UTR 3			NP_056114.1
XM_005267474.4	377	UTR 3			XP_005267531.1
XM_011536590.2	377	UTR 3			XP_011534892.1
XM_017021114.1	377	Intron			XP_016876603.1

Gene

LOC101927045

Gene Name

uncharacterized LOC101927045

There are no transcripts associated with this gene.

Gene

SDR39U1

Gene Name

short chain dehydrogenase/reductase family 39U member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290292.1	377	Missense Mutation	ATT,TTT	I47F	NP_001277221.1
NM_001290293.2	377	Missense Mutation	ATT,TTT	I21F	NP_001277222.1
NM_001308075.1	377	Missense Mutation	ATT,TTT	I47F	NP_001295004.1
NM_020195.2	377	Missense Mutation	ATT,TTT	I129F	NP_064580.2
XM_011536975.1	377	Missense Mutation	ATT,TTT	I152F	XP_011535277.1
XM_011536976.1	377	Missense Mutation	ATT,TTT	I87F	XP_011535278.1

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