Product Details

SNP ID

rs2228231

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24370135 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCCGGAGGCCGAGGGCCAGAGGATA[A/G]CTGGCTACTCCTCAGTGCTCCTGGG

Phenotype

MIM: 602699

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NFATC4 PubMed Links

Gene Details

Gene

NFATC4

Gene Name

nuclear factor of activated T-cells 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136022.2	1058	Missense Mutation	AAC,AGC	N309S	NP_001129494.1
NM_001198965.1	1058	Missense Mutation	AAC,AGC	N246S	NP_001185894.1
NM_001198966.2	1058	Missense Mutation	AAC,AGC	N176S	NP_001185895.1
NM_001198967.2	1058	Missense Mutation	AAC,AGC	N309S	NP_001185896.1
NM_001288802.1	1058	Missense Mutation	AAC,AGC	N234S	NP_001275731.1
NM_001320043.1	1058	Missense Mutation	AAC,AGC	N309S	NP_001306972.1
NM_004554.4	1058	Missense Mutation	AAC,AGC	N246S	NP_004545.2
XM_011536797.2	1058	Missense Mutation	AAC,AGC	N234S	XP_011535099.1
XM_011536798.1	1058	Missense Mutation	AAC,AGC	N223S	XP_011535100.1
XM_011536799.2	1058	Missense Mutation	AAC,AGC	N234S	XP_011535101.1

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